(used for variant description)
(last modified August 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000163.4 in the GHR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011688.1, covering GHR transcript NM_000163.4.
(upstream sequence)
. g.4863
cggcggcggcgg c.-181
. . . . . . g.4923
cggcagcggcagcagcagctgctacagtggcggtggcggcggcggctgctgctgagcccg c.-121
. . . . . . g.4983
ggcggcggcggggaccccgggctggggccacgcgggccggaggccccggcaccattggcc c.-61
. . . . . | 02 g.146951
ccagcgcagacgcgaacccgcgctctctgatcagaggcgaagctcggag | gtcctacaggt c.-1
. . . . . . g.147011
ATGGATCTCTGGCAGCTGCTGTTGACCTTGGCACTGGCAGGATCAAGTGATGCTTTTTCT c.60
M D L W Q L L L T L A L A G S S D A F S p.20
. | 03 . . . . . g.210164
GGAAGTGAGG | CCACAGCAGCTATCCTTAGCAGAGCACCCTGGAGTCTGCAAAGTGTTAAT c.120
G S E A | T A A I L S R A P W S L Q S V N p.40
. | 04 . . . . . g.270010
CCAGGCCTAAAGACAA | ATTCTTCTAAGGAGCCTAAATTCACCAAGTGCCGTTCACCTGAG c.180
P G L K T N | S S K E P K F T K C R S P E p.60
. . . . . . g.270070
CGAGAGACTTTTTCATGCCACTGGACAGATGAGGTTCATCATGGTACAAAGAACCTAGGA c.240
R E T F S C H W T D E V H H G T K N L G p.80
. . | 05 . . . . g.276027
CCCATACAGCTGTTCTATACCAGAAG | GAACACTCAAGAATGGACTCAAGAATGGAAAGAA c.300
P I Q L F Y T R R | N T Q E W T Q E W K E p.100
. . . . . . g.276087
TGCCCTGATTATGTTTCTGCTGGGGAAAACAGCTGTTACTTTAATTCATCGTTTACCTCC c.360
C P D Y V S A G E N S C Y F N S S F T S p.120
. . . . . . g.276147
ATCTGGATACCTTATTGTATCAAGCTAACTAGCAATGGTGGTACAGTGGATGAAAAGTGT c.420
I W I P Y C I K L T S N G G T V D E K C p.140
. | 06 . . . . g.280941
TTCTCTGTTGATGAAATAG | TGCAACCAGATCCACCCATTGCCCTCAACTGGACTTTACTG c.480
F S V D E I V | Q P D P P I A L N W T L L p.160
. . . . . . g.281001
AACGTCAGTTTAACTGGGATTCATGCAGATATCCAAGTGAGATGGGAAGCACCACGCAAT c.540
N V S L T G I H A D I Q V R W E A P R N p.180
. . . . . . g.281061
GCAGATATTCAGAAAGGATGGATGGTTCTGGAGTATGAACTTCAATACAAAGAAGTAAAT c.600
A D I Q K G W M V L E Y E L Q Y K E V N p.200
. | 07 . . . . g.292325
GAAACTAAATGGAAAATG | ATGGACCCTATATTGACAACATCAGTTCCAGTGTACTCATTG c.660
E T K W K M | M D P I L T T S V P V Y S L p.220
. . . . . . g.292385
AAAGTGGATAAGGAATATGAAGTGCGTGTGAGATCCAAACAACGAAACTCTGGAAATTAT c.720
K V D K E Y E V R V R S K Q R N S G N Y p.240
. . . . . . g.292445
GGCGAGTTCAGTGAGGTGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAA c.780
G E F S E V L Y V T L P Q M S Q F T C E p.260
| 08 . . . . . . g.294561
GAAG | ATTTCTACTTTCCATGGCTCTTAATTATTATCTTTGGAATATTTGGGCTAACAGTG c.840
E D | F Y F P W L L I I I F G I F G L T V p.280
. . . | 09 . . . g.299153
ATGCTATTTGTATTCTTATTTTCTAAACAGCAAAG | GATTAAAATGCTGATTCTGCCCCCA c.900
M L F V F L F S K Q Q R | I K M L I L P P p.300
. . . . | 10 . . g.299544
GTTCCAGTTCCAAAGATTAAAGGAATCGATCCAGATCTCCTCAAG | GAAGGAAAATTAGAG c.960
V P V P K I K G I D P D L L K | E G K L E p.320
. . . . . . g.299604
GAGGTGAACACAATCTTAGCCATTCATGATAGCTATAAACCCGAATTCCACAGTGATGAC c.1020
E V N T I L A I H D S Y K P E F H S D D p.340
. . . . . . g.299664
TCTTGGGTTGAATTTATTGAGCTAGATATTGATGAGCCAGATGAAAAGACTGAGGAATCA c.1080
S W V E F I E L D I D E P D E K T E E S p.360
. . . . . . g.299724
GACACAGACAGACTTCTAAGCAGTGACCATGAGAAATCACATAGTAACCTAGGGGTGAAG c.1140
D T D R L L S S D H E K S H S N L G V K p.380
. . . . . . g.299784
GATGGCGACTCTGGACGTACCAGCTGTTGTGAACCTGACATTCTGGAGACTGATTTCAAT c.1200
D G D S G R T S C C E P D I L E T D F N p.400
. . . . . . g.299844
GCCAATGACATACATGAGGGTACCTCAGAGGTTGCTCAGCCACAGAGGTTAAAAGGGGAA c.1260
A N D I H E G T S E V A Q P Q R L K G E p.420
. . . . . . g.299904
GCAGATCTCTTATGCCTTGACCAGAAGAATCAAAATAACTCACCTTATCATGATGCTTGC c.1320
A D L L C L D Q K N Q N N S P Y H D A C p.440
. . . . . . g.299964
CCTGCTACTCAGCAGCCCAGTGTTATCCAAGCAGAGAAAAACAAACCACAACCACTTCCT c.1380
P A T Q Q P S V I Q A E K N K P Q P L P p.460
. . . . . . g.300024
ACTGAAGGAGCTGAGTCAACTCACCAAGCTGCCCATATTCAGCTAAGCAATCCAAGTTCA c.1440
T E G A E S T H Q A A H I Q L S N P S S p.480
. . . . . . g.300084
CTGTCAAACATCGACTTTTATGCCCAGGTGAGCGACATTACACCAGCAGGTAGTGTGGTC c.1500
L S N I D F Y A Q V S D I T P A G S V V p.500
. . . . . . g.300144
CTTTCCCCGGGCCAAAAGAATAAGGCAGGGATGTCCCAATGTGACATGCACCCGGAAATG c.1560
L S P G Q K N K A G M S Q C D M H P E M p.520
. . . . . . g.300204
GTCTCACTCTGCCAAGAAAACTTCCTTATGGACAATGCCTACTTCTGTGAGGCAGATGCC c.1620
V S L C Q E N F L M D N A Y F C E A D A p.540
. . . . . . g.300264
AAAAAGTGCATCCCTGTGGCTCCTCACATCAAGGTTGAATCACACATACAGCCAAGCTTA c.1680
K K C I P V A P H I K V E S H I Q P S L p.560
. . . . . . g.300324
AACCAAGAGGACATTTACATCACCACAGAAAGCCTTACCACTGCTGCTGGGAGGCCTGGG c.1740
N Q E D I Y I T T E S L T T A A G R P G p.580
. . . . . . g.300384
ACAGGAGAACATGTTCCAGGTTCTGAGATGCCTGTCCCAGACTATACCTCCATTCATATA c.1800
T G E H V P G S E M P V P D Y T S I H I p.600
. . . . . . g.300444
GTACAGTCCCCACAGGGCCTCATACTCAATGCGACTGCCTTGCCCTTGCCTGACAAAGAG c.1860
V Q S P Q G L I L N A T A L P L P D K E p.620
. . . . . g.300501
TTTCTCTCATCATGTGGCTATGTGAGCACAGACCAACTGAACAAAATCATGCCTTAG c.1917
F L S S C G Y V S T D Q L N K I M P X p.638
. . . . . . g.300561
cctttctttggtttcccaagagctacgtatttaatagcaaagaattgactggggcaataa c.*60
. . . . . . g.300621
cgtttaagccaaaacaatgtttaaaccttttttgggggagtgacaggatggggtatggat c.*120
. . . . . . g.300681
tctaaaatgccttttcccaaaatgttgaaatatgatgttaaaaaaataagaagaatgctt c.*180
. . . . . . g.300741
aatcagatagatattcctattgtgcaatgtaaatattttaaagaattgtgtcagactgtt c.*240
. . . . . . g.300801
tagtagcagtgattgtcttaatattgtgggtgttaatttttgatactaagcattgaatgg c.*300
. . . . . . g.300861
ctatgtttttaatgtatagtaaatcacgctttttgaaaaagcgaaaaaatcaggtggctt c.*360
. . . . . . g.300921
ttgcggttcaggaaaattgaatgcaaaccatagcacaggctaattttttgttgtttctta c.*420
. . . . . . g.300981
aataagaaacttttttatttaaaaaactaaaaactagaggtgagaaatttaaactataag c.*480
. . . . . . g.301041
caagaaggcaaaaatagtttggatatgtaaaacatttattttgacataaagttgataaag c.*540
. . . . . . g.301101
attttttaataatttagacttcaagcatggctattttatattacactacacactgtgtac c.*600
. . . . . . g.301161
tgcagttggtatgacccctctaaggagtgtagcaactacagtctaaagctggtttaatgt c.*660
. . . . . . g.301221
tttggccaatgcacctaaagaaaaacaaactcgttttttacaaagcccttttatacctcc c.*720
. . . . . . g.301281
ccagactccttcaacaattctaaaatgattgtagtaatctgcattattggaatataattg c.*780
. . . . . . g.301341
ttttatctgaatttttaaacaagtatttgttaatttagaaaactttaaagcgtttgcaca c.*840
. . . . . . g.301401
gatcaacttaccaggcaccaaaagaagtaaaagcaaaaaagaaaacctttcttcaccaaa c.*900
. . . . . . g.301461
tcttggttgatgccaaaaaaaaatacatgctaagagaagtagaaatcatagctggttcac c.*960
. . . . . . g.301521
actgaccaagatacttaagtgctgcaattgcacgcggagtgagttttttagtgcgtgcag c.*1020
. . . . . . g.301581
atggtgagagataagatctatagcctctgcagcggaatctgttcacacccaacttggttt c.*1080
. . . . . . g.301641
tgctacataattatccaggaagggaataaggtacaagaagcattttgtaagttgaagcaa c.*1140
. . . . . . g.301701
atcgaatgaaattaactgggtaatgaaacaaagagttcaagaaataagtttttgtttcac c.*1200
. . . . . . g.301761
agcctataaccagacacatactcatttttcatgataatgaacagaacatagacagaagaa c.*1260
. . . . . . g.301821
acaaggttttcagtccccacagataactgaaaattatttaaaccgctaaaagaaactttc c.*1320
. . . . . . g.301881
tttctcactaaatcttttataggatttatttaaaatagcaaaagaagaagtttcatcatt c.*1380
. . . . . . g.301941
ttttacttcctctctgagtggactggcctcaaagcaagcattcagaagaaaaagaagcaa c.*1440
. . . . . . g.302001
cctcagtaatttagaaatcattttgcaatcccttaatatcctaaacatcattcatttttg c.*1500
. . . . . . g.302061
ttgttgttgttgttgttgagacagagtctcgctctgtcgccaggctagagtgcggtggcg c.*1560
. . . . . . g.302121
cgatcttgactcactgcaatctccacctcccacaggttcaggcgattcccgtgcctcagc c.*1620
. . . . . . g.302181
ctcctgagtagctgggactacaggcacgcaccaccatgccaggctaatttttttgtattt c.*1680
. . . . . . g.302241
tagcagagacggggtttcaccatgttggccaggatggtctcgatctcctgacctcgtgat c.*1740
. . . . . . g.302301
ccacccgactcggcctcccaaagtgctgggattacaggtgtaagccaccgtgcccagccc c.*1800
. . . . . . g.302361
taaacatcattcttgagagcattgggatatctcctgaaaaggtttatgaaaaagaagaat c.*1860
. . . . . . g.302421
ctcatctcagtgaagaatacttctcattttttaaaaaagcttaaaactttgaagttagct c.*1920
. . . . . . g.302481
ttaacttaaatagtatttcccatttatcgcagaccttttttaggaagcaagcttaatggc c.*1980
. . . . . . g.302541
tgataattttaaattctctctcttgcaggaaggactatgaaaagctagaattgagtgttt c.*2040
. . . . . . g.302601
aaagttcaacatgttatttgtaatagatgtttgatagattttctgctactttgctgctat c.*2100
. . . . . . g.302661
ggttttctccaagagctacataatttagtttcatataaagtatcatcagtgtagaaccta c.*2160
. . . . . . g.302721
attcaattcaaagctgtgtgtttggaagactatcttactatttcacaacagcctgacaac c.*2220
. . . . . . g.302781
atttctatagccaaaaatagctaaatacctcaatcagtctcagaatgtcattttggtact c.*2280
. . . . . . g.302841
ttggtggccacataagccattattcactagtatgactagttgtgtctggcagtttatatt c.*2340
. . . . . . g.302901
taactctctttatgtctgtggattttttccttcaaagtttaataaatttattttcttgga c.*2400
. . . . . g.302955
ttcctgatagtgtgcttctgttatcaaacaccaacataaaaatgatctaaacca c.*2454
(downstream sequence)
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