(used for variant description)
(last modified August 8, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004452.3 in the ESRRB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012278.1, covering ESRRB transcript NM_004452.3.
(upstream sequence)
. g.5011
ccgcagagagg c.-361
. . . . . . g.5071
tgtggtcagggacatttcccctggccgggagcccatggagcactgtcctcagagatgcgc c.-301
. . . . . . g.5131
aggttaggctcactgtctaggccaggcccaccttagtcactgtggactggcaatggaagc c.-241
. . . . . . g.5191
tcttcctggacacacctgccctagccctcaccctggggtggaagagaaatgagcttggct c.-181
. . . . . | 02 g.38060
tgcaactcagaccattccacggaggcatcctccccttcctgggctggtg | aataaaagttt c.-121
. . . . . . | 03 g.41203
cctgaggtcaaggacttccttttccctgccaaaatggtgtccagaactttgag | gccagag c.-61
. . . . . | 04 . g.73007
gtgatccagtgatttgggagctgcaggtcacacaggctgctcagagg | gctgctgaacagg c.-1
. . . . . . g.73067
ATGTCCTCGGACGACAGGCACCTGGGCTCCAGCTGCGGCTCCTTCATCAAGACTGAGCCG c.60
M S S D D R H L G S S C G S F I K T E P p.20
. . . . . . g.73127
TCCAGCCCGTCCTCGGGCATCGATGCCCTCAGCCACCACAGCCCCAGTGGCTCGTCCGAC c.120
S S P S S G I D A L S H H S P S G S S D p.40
. . . . . . g.73187
GCCAGCGGCGGCTTTGGCCTGGCCCTGGGCACCCACGCCAACGGTCTGGACTCGCCACCC c.180
A S G G F G L A L G T H A N G L D S P P p.60
. . . . . . g.73247
ATGTTTGCAGGCGCCGGGCTGGGAGGCACCCCATGCCGCAAGAGCTACGAGGACTGTGCC c.240
M F A G A G L G G T P C R K S Y E D C A p.80
. . . . . . g.73307
AGCGGCATCATGGAGGACTCGGCCATCAAGTGCGAGTACATGCTCAACGCCATCCCCAAG c.300
S G I M E D S A I K C E Y M L N A I P K p.100
. . . . . . g.73367
CGCCTGTGCCTCGTGTGCGGGGACATTGCCTCTGGCTACCACTACGGCGTGGCCTCCTGC c.360
R L C L V C G D I A S G Y H Y G V A S C p.120
. . . | 05. . . g.96221
GAGGCTTGCAAGGCCTTCTTCAAGAGGACTATCCAAG | GGAACATTGAGTACAGCTGCCCG c.420
E A C K A F F K R T I Q G | N I E Y S C P p.140
. . . . . . g.96281
GCCACCAACGAGTGCGAGATCACCAAACGGAGGCGCAAGTCCTGCCAGGCCTGCCGCTTC c.480
A T N E C E I T K R R R K S C Q A C R F p.160
. . . | 06 . . . g.115695
ATGAAATGCCTCAAAGTGGGGATGCTGAAGGAAG | GTGTGCGCCTTGATCGAGTGCGTGGA c.540
M K C L K V G M L K E G | V R L D R V R G p.180
. . . . . . g.115755
GGCCGTCAGAAATACAAGCGACGGCTGGACTCAGAGAGCAGCCCATACCTGAGCTTACAA c.600
G R Q K Y K R R L D S E S S P Y L S L Q p.200
. . | 07 . . . . g.116286
ATTTCTCCACCTGCTAAAAAGCCAT | TGACCAAGATTGTCTCATACCTACTGGTGGCTGAG c.660
I S P P A K K P L | T K I V S Y L L V A E p.220
. . . . . . g.116346
CCGGACAAGCTCTATGCCATGCCTCCCCCTGGTATGCCTGAGGGGGACATCAAGGCCCTG c.720
P D K L Y A M P P P G M P E G D I K A L p.240
. . . . . . g.116406
ACCACTCTCTGTGACCTGGCAGACCGAGAGCTTGTGGTCATCATTGGCTGGGCCAAGCAC c.780
T T L C D L A D R E L V V I I G W A K H p.260
| 08. . . . . . g.125153
ATCCCAG | GCTTCTCAAGCCTCTCCCTGGGGGACCAGATGAGCCTGCTGCAGAGTGCCTGG c.840
I P G | F S S L S L G D Q M S L L Q S A W p.280
. . . . . . g.125213
ATGGAAATCCTCATCCTGGGCATCGTGTACCGCTCGCTGCCCTATGACGACAAGCTGGTG c.900
M E I L I L G I V Y R S L P Y D D K L V p.300
. . . . . . g.125273
TACGCTGAGGACTACATCATGGATGAGGAGCACTCCCGCCTCGCGGGGCTGCTGGAGCTC c.960
Y A E D Y I M D E E H S R L A G L L E L p.320
. . . . . . g.125333
TACCGGGCCATCCTGCAGCTGGTACGCAGGTACAAGAAGCTCAAGGTGGAGAAGGAGGAG c.1020
Y R A I L Q L V R R Y K K L K V E K E E p.340
. . . | 09. . . g.131890
TTTGTGACGCTCAAGGCCCTGGCCCTCGCCAACTCCG | ATTCCATGTACATCGAGGATCTA c.1080
F V T L K A L A L A N S D | S M Y I E D L p.360
. . . . . . g.131950
GAGGCTGTCCAGAAGCTGCAGGACCTGCTGCACGAGGCACTGCAGGACTACGAGCTGAGC c.1140
E A V Q K L Q D L L H E A L Q D Y E L S p.380
. . . . . . g.132010
CAGCGCCATGAGGAGCCCTGGAGGACGGGCAAGCTGCTGCTGACACTGCCGCTGCTGCGG c.1200
Q R H E E P W R T G K L L L T L P L L R p.400
. . . . . . g.132070
CAGACGGCCGCCAAGGCCGTGCAGCACTTCTATAGCGTCAAACTGCAGGGCAAAGTGCCC c.1260
Q T A A K A V Q H F Y S V K L Q G K V P p.420
. . . | 10 . . . g.133540
ATGCACAAACTCTTCCTGGAGATGCTGGAGGCCAAG | GTTGGCCAAGAGCAGCTTAGAGGA c.1320
M H K L F L E M L E A K | V G Q E Q L R G p.440
. . . . . . g.133600
TCTCCCAAGGATGAAAGAATGTCAAGCCATGATGGAAAATGCCCCTTCCAATCAGCTGCC c.1380
S P K D E R M S S H D G K C P F Q S A A p.460
. . . . . . g.133660
TTCACAAGCAGGGATCAGAGCAACTCCCCGGGGATCCCCAATCCACGCCCTTCTAGTCCA c.1440
F T S R D Q S N S P G I P N P R P S S P p.480
. . . . . . g.133720
ACCCCCCTCAATGAGAGAGGCAGGCAGATCTCACCCAGCACTAGGACACCAGGAGGCCAG c.1500
T P L N E R G R Q I S P S T R T P G G Q p.500
| 11 . . g.134408
| GGAAAGCATCTCTGGCTCACCATGTAA c.1527
| G K H L W L T M X p.508
. . . . . . g.134468
catctggcttggagcaagtgggtgttctgcacaccaggcagctgcacctcactggatcta c.*60
. . . . . . g.134528
gtgttgctgcgagtgacctcacttcagagcccctctagcagagtggggcggaagtcctga c.*120
. . . . . . g.134588
tggttggtgtccatgaggtggaagctgcttttatacttaaaactcagatcacaacaggaa c.*180
. . . . . . g.134648
atgtgtcagtaacaatggaactccatccaatgggaaagttcctggtactgaaggggtcca c.*240
. . . . . . g.134708
ttggacactcagaaaagaagttcaggggccaacttcttagctggaatcctggccagatga c.*300
. . . . . . g.134768
ggaccctctccggggaagggagaggactgacttagtggaaggtggtgaagtgaggagagt c.*360
. . . . . . g.134828
ttaggggaaccttcccccagtggaacagatctcaagtttaccctaaacctgccatttctg c.*420
. . . . . . g.134888
gaaaatctgtaaagaggaaacagcctgtctcagctgtactctcatgatacaggtcatttg c.*480
. . . . . . g.134948
aaatgaaccaagaaataaaacatgaaaatccaaccatggagaaggtggtatggctgggtt c.*540
. . . . . . g.135008
ttgtttggtccccttgtccttatacgttctaaagtttccagactggctttgtcactttgt c.*600
. . . . . . g.135068
gaactcgtcatgtgtgaaaaccaatctttgcatatagggaacttcctcgggccacacttt c.*660
. . . . . . g.135128
aagaaccaagtaagaggctctcaagactccagcagagtcgggaggccatggcagcgcctt c.*720
. . . . . . g.135188
agaggagctggaacctgcacccacctgtgtcggtggggggggcctcctttccccatagac c.*780
. . . . . . g.135248
tctgccctccctctgtgcagatggaagtggcaggggagggtgaccagcttgtgacaagaa c.*840
. . . . . . g.135308
gactgaagggtccagagtccatgctcacggaacagcaccaaagaaaagcactatgtggaa c.*900
. . . . . . g.135368
agattgttttattttctaataatgataatatggctggaatggcttcttaagatgtatata c.*960
. . . . . . g.135428
ttttttaaaatggcagttccccattgcagcatcacctacttgtatgtctttctgcctctg c.*1020
. . . . . . g.135488
tatatgttctcccagaaacccccatgtaaatcaaatgccctaggatgcttccatcctggt c.*1080
. . . g.135524
cccatgtatctggaatctaataaataaggaaaggaa c.*1116
(downstream sequence)
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