(used for variant description)
(last modified December 19, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_020151.3 in the STARD7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering STARD7 transcript NM_020151.3.
(upstream sequence)
. . . . g.5041
ccgcgcgtgtggcagtcgcggaaggcgcgggagcttgcgtg c.-361
. . . . . . g.5101
ctgctgggcctgagctgtctgtctcgtttctgtccgcgcgccctgcatcccggccccggg c.-301
. . . . . . g.5161
cgcccgctggaggtcgccgaggagccacagggctgactggtctgctgcccgggcccagga c.-241
. . . . . . g.5221
gtgcctggtgtagcagtcgcggagccatcccggcgtctgctgccatgaccgactctcccc c.-181
. . . . . . g.5281
tcagaggagactcttcctcagcggtggctgcagagacagatgagcggcggctcctggccg c.-121
. . . . . . g.5341
cgggaccgtgagacgggttcgtggccggccatttagggggacgctgcgaccaccgcctgc c.-61
. . . . . . g.5401
gcccctccggactggttccttgggccccggaagctcgcggcgggccctgcgggaggcggc c.-1
. . . . . . g.5461
ATGCTCCCGCGGAGGCTGCTGGCCGCCTGGCTGGCGGGGACGCGGGGCGGGGGCCTGCTG c.60
M L P R R L L A A W L A G T R G G G L L p.20
. . . . . . g.5521
GCGCTTCTGGCCAATCAGTGCCGCTTCGTCACGGGCCTGCGCGTGCGGCGCGCGCAGCAG c.120
A L L A N Q C R F V T G L R V R R A Q Q p.40
. . . . . . g.5581
ATCGCGCAGCTCTACGGCCGCCTCTACTCCGAGAGCTCACGCCGCGTTCTCCTCGGCCGC c.180
I A Q L Y G R L Y S E S S R R V L L G R p.60
. . . . . . g.5641
CTCTGGCGCCGGCTGCACGGCCGTCCTGGCCATGCCTCTGCCTTGATGGCGGCGTTAGCC c.240
L W R R L H G R P G H A S A L M A A L A p.80
. . . . . | 02 . g.18296
GGCGTCTTCGTTTGGGACGAGGAGAGGATCCAGGAGGAGGAGTTGCAGAG | ATCTATTAAT c.300
G V F V W D E E R I Q E E E L Q R | S I N p.100
. . . . . . g.18356
GAGATGAAGCGGTTGGAAGAAATGTCAAATATGTTTCAGAGCTCTGGAGTCCAGCACCAC c.360
E M K R L E E M S N M F Q S S G V Q H H p.120
. . . . . . g.18416
CCTCCAGAACCAAAAGCCCAAACAGAAGGGAATGAAGATTCAGAGGGCAAAGAGCAACGT c.420
P P E P K A Q T E G N E D S E G K E Q R p.140
. . . . . . g.18476
TGGGAAATGGTGATGGATAAGAAACACTTTAAGCTGTGGCGGCGCCCAATTACAGGCACC c.480
W E M V M D K K H F K L W R R P I T G T p.160
. | 03 . . . . g.18869
CACCTTTACCAGTACCGAG | TTTTTGGAACCTACACAGATGTGACACCTCGGCAGTTCTTC c.540
H L Y Q Y R V | F G T Y T D V T P R Q F F p.180
| 04 . . . . . g.20534
AATGTTCAG | CTGGACACAGAGTATAGAAAAAAATGGGATGCCCTGGTAATCAAGCTGGAG c.600
N V Q | L D T E Y R K K W D A L V I K L E p.200
. . . . . . g.20594
GTGATTGAGAGGGATGTGGTTAGTGGTTCCGAGGTTCTTCACTGGGTAACCCATTTTCCT c.660
V I E R D V V S G S E V L H W V T H F P p.220
| 05 . . . . . . g.20735
| TATCCAATGTACTCACGGGATTATGTTTATGTTCGGCGGTATAGTGTGGATCAGGAAAAC c.720
| Y P M Y S R D Y V Y V R R Y S V D Q E N p.240
. . | 06 . . . . g.21404
AACATGATGGTGTTGGTGTCGCG | TGCTGTGGAGCATCCGAGTGTGCCAGAGTCTCCAGAA c.780
N M M V L V S R | A V E H P S V P E S P E p.260
. . . . . . g.21464
TTCGTCAGGGTCAGATCATATGAATCCCAAATGGTTATCCGTCCCCACAAGTCATTTGAT c.840
F V R V R S Y E S Q M V I R P H K S F D p.280
| 07 . . . . . . g.26591
GAG | AATGGCTTTGACTACTTACTAACATACAGTGACAATCCCCAAACGGTGTTTCCTCGC c.900
E | N G F D Y L L T Y S D N P Q T V F P R p.300
. . | 08 . . . g.26953
TACTGTGTTAGTTGGATGGTTTCCAGTG | GCATGCCAGATTTCCTGGAGAAGCTGCACATG c.960
Y C V S W M V S S G | M P D F L E K L H M p.320
. . . . . . g.27013
GCCACTCTGAAAGCCAAGAATATGGAGATTAAAGTAAAGGACTACATCTCAGCTAAGCCT c.1020
A T L K A K N M E I K V K D Y I S A K P p.340
. . . . . . g.27073
CTGGAAATGAGTAGTGAAGCCAAGGCCACCAGCCAGTCCTCTGAGCGAAAGAACGAGGGC c.1080
L E M S S E A K A T S Q S S E R K N E G p.360
. . . g.27106
AGCTGTGGCCCTGCTCGGATTGAGTATGCTTGA c.1113
S C G P A R I E Y A X p.370
. . . . . . g.27166
caggctttgggataagaagggacaaggtgcttctagccctgtctcagtccgttatcactc c.*60
. . . . . . g.27226
tgctgtagaagggggacatgccacatgtattagaaggcatctgctgtaacttccagtgca c.*120
. . . . . . g.27286
agataattcaataactgatgtcccatttcattcagagcccttattgctcttatcaaaaca c.*180
. . . . . . g.27346
gaagaaggctacatttgtgggagtgttgtcatattctcaggccaactgttttgaaattcg c.*240
. . . . . . g.27406
gtatctcactgagctaatctggaacaaacctctcacctcaggccagaaggggatgacctc c.*300
. . . . . . g.27466
catttgcttctctgagtagtttcctctgctgacattccaaatcccaccatcgattgtgca c.*360
. . . . . . g.27526
gcgctttggatttccttcagttctccaggtccacctggaaagtatagttggccagttgag c.*420
. . . . . . g.27586
tctctcaaatgaggggctactgggagtgctcttggtaacaatcatgatgtgaatgggtgt c.*480
. . . . . . g.27646
gaacgatacttggctatgttaagtgccttgtccgcaccttgcttttatctctagagacat c.*540
. . . . . . g.27706
gaagttattattaattttttttttttttaagtagagatggagtttcactctgtttcccag c.*600
. . . . . . g.27766
gctggtcttgaactcctgggccatgcctggccagggacatgaatttgtacaaagaaattt c.*660
. . . . . . g.27826
ccctccctgcctgcacaatatcacccattgactcaccttatccaaagcaagtttcctgtg c.*720
. . . . . . g.27886
aatcggccagttcttctatattcattggatcattgcctccttcctaaccttccccattta c.*780
. . . . . . g.27946
ccaagaacactgggagactaatccttttagatagtagctttttgatgctcaaaacatcac c.*840
. . . . . . g.28006
atttaaatttagtttaaaaattttttaacttttgtgtcaaataggagttgaggaattgag c.*900
. . . . . . g.28066
caggattctaccctagtccgattgtatagaaaacaccattttgattcaggtattattttt c.*960
. . . . . . g.28126
catatttcaggtttgacttgttcttttcagaaggctaaagtcagaggaatgggggctggg c.*1020
. . . . . . g.28186
ccactcccttggagctctcagatctacagacaagctgtgtgaatgcatagatgtaatctt c.*1080
. . . . . . g.28246
gtctcaaatactaatacagtggagatttggtttatgttaccattaagttcctctaaaaag c.*1140
. . . . . . g.28306
tttttcttcctctcttcagagccaaaataaaagtgaactacactgttcagataaggtcac c.*1200
. . . . . . g.28366
aatctgatgctgtcagtttgaccgagctggttttgcttatggtcatgctgcaatttgtta c.*1260
. . . . . . g.28426
gaataatagggatcaagttttaaatcctcctccttcccttttttctggagtcttgagggc c.*1320
. . . . . . g.28486
cagagtttttgtttttgtttttgtttttgttttcctgcttgctactgttttgtggtgttg c.*1380
. . . . . . g.28546
aaaagtggtttaaacctgagactaacttaaacacttccttgaccttcttgttgcctgttc c.*1440
. . . . . . g.28606
atttttgtgccaaggaagtagctgccccagtgtatgtcttgccttctccgcgtcattgtt c.*1500
. . . . . . g.28666
ggaagaggagagatgcatcgagcagtcccagctgcttttcatttattacttcttctttcc c.*1560
. . . . . . g.28726
aggacctgacagaagtcagggaagagtccctgggttatgtccaaacttagcacctgcaat c.*1620
. . . . . . g.28786
tgttgggatgtggatggatgtgtgcataagagagagagagaatatgtgtgtgtgtgtgtg c.*1680
. . . . . . g.28846
cgtctgcgagcgcacacacatgcacaagtgcgaaggagttgcggttgctccatgttctga c.*1740
. . . . . . g.28906
cttagggcaatttgattctgcacttggggtctgtctgtacagttactcatgtcattgtaa c.*1800
. . . . . . g.28966
tgatttcactcctaactgtgacatttttatcaaatgtgtgaataaatacataaagattgg c.*1860
. g.28977
tacaaaaaaaa c.*1871
(downstream sequence)
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