(used for variant description)
(last modified November 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015368.3 in the PANX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027936.1, covering PANX1 transcript NM_015368.3.
(upstream sequence)
. . g.5025
gggcggcgcggaggggcagggccag c.-361
. . . . . . g.5085
agggaagcgctttgttccgcgcgtggttcccgcgcctgggggtgcgcgggagaggcgcga c.-301
. . . . . . g.5145
atccgagtgccgcgcgcggcccggggacttgcacgggcgtgcggggtggaaccgcaggaa c.-241
. . . . . . g.5205
gcggagctctcgggttcccgccccgccccgccccgccggcggcggaggcagcgagcgcga c.-181
. . . . . . g.5265
gagcccagcggagtcgctgggagcctgaggcaccgagacacaaaggcaggcgggatgcgg c.-121
. . . . . . g.5325
gagcaggcaaagggaaagcgaaagccgcgcgcccggccggtgactgggtgaaggcgccgc c.-61
. . . . . . g.5385
gcagctttcccgacgccggctgtacccggacctcctggtcgagcctggcgcgccgcagcc c.-1
. . . . . . g.5445
ATGGCCATCGCTCAACTGGCCACGGAGTACGTGTTCTCGGATTTCTTGCTGAAGGAGCCC c.60
M A I A Q L A T E Y V F S D F L L K E P p.20
. . . . . . g.5505
ACGGAGCCCAAGTTCAAGGGGCTGCGACTGGAGCTGGCTGTGGACAAGATGGTCACGTGC c.120
T E P K F K G L R L E L A V D K M V T C p.40
. . . . . . g.5565
ATTGCGGTGGGGCTGCCCCTGCTGCTCATCTCGCTGGCCTTCGCGCAGGAGATCTCGATT c.180
I A V G L P L L L I S L A F A Q E I S I p.60
| 02 . . . . . . g.29622
G | GTACACAGATAAGCTGTTTCTCTCCAAGTTCTTTCTCCTGGCGTCAGGCTGCCTTTGTG c.240
G | T Q I S C F S P S S F S W R Q A A F V p.80
. . . . . . g.29682
GATTCATATTGCTGGGCGGCTGTTCAGCAGAAGAACTCACTGCAGAGCGAGTCTGGAAAC c.300
D S Y C W A A V Q Q K N S L Q S E S G N p.100
. . | 03 . . . . g.54480
CTCCCACTGTGGCTGCATAAG | TTTTTCCCCTACATCCTGCTGCTCTTTGCGATCCTCCTG c.360
L P L W L H K | F F P Y I L L L F A I L L p.120
. . . . . . g.54540
TACCTGCCCCCGCTGTTCTGGCGTTTCGCAGCTGCTCCTCATATTTGCTCAGACTTGAAG c.420
Y L P P L F W R F A A A P H I C S D L K p.140
. . . . . . g.54600
TTTATCATGGAAGAACTTGACAAAGTTTACAACCGTGCAATTAAGGCTGCAAAGAGTGCG c.480
F I M E E L D K V Y N R A I K A A K S A p.160
. . . . . . g.54660
CGTGACCTTGACATGAGAGATGGAGCCTGCTCAGTTCCAGGTGTTACCGAGAACTTAGGG c.540
R D L D M R D G A C S V P G V T E N L G p.180
| 04 . . . . . . g.55729
CAAAG | TTTGTGGGAGGTATCTGAAAGCCACTTCAAGTACCCAATTGTGGAGCAGTACTTG c.600
Q S | L W E V S E S H F K Y P I V E Q Y L p.200
. . . . . . g.55789
AAGACAAAGAAAAATTCTAATAATTTAATCATCAAGTACATTAGCTGCCGCCTGCTGACA c.660
K T K K N S N N L I I K Y I S C R L L T p.220
. . . . . . g.55849
CTCATCATTATACTGTTAGCGTGTATCTACCTGGGCTATTACTTCAGCCTCTCCTCACTC c.720
L I I I L L A C I Y L G Y Y F S L S S L p.240
. . . . . . g.55909
TCAGACGAGTTTGTGTGCAGCATCAAATCAGGGATCCTGAGAAACGACAGCACCGTGCCC c.780
S D E F V C S I K S G I L R N D S T V P p.260
. . . . . . g.55969
GATCAGTTTCAGTGCAAACTCATTGCCGTGGGCATCTTCCAGTTGCTCAGTGTCATTAAC c.840
D Q F Q C K L I A V G I F Q L L S V I N p.280
. . . . . . g.56029
CTTGTGGTTTATGTCCTGCTGGCTCCCGTGGTTGTCTACACGCTGTTTGTTCCATTCCGA c.900
L V V Y V L L A P V V V Y T L F V P F R p.300
. . . . . . g.56089
CAGAAGACAGATGTTCTCAAAGTGTACGAAATCCTCCCCACTTTTGATGTTCTGCATTTC c.960
Q K T D V L K V Y E I L P T F D V L H F p.320
. . . . . . g.56149
AAATCTGAAGGGTACAACGATTTGAGCCTCTACAATCTCTTCTTGGAGGAAAATATAAGT c.1020
K S E G Y N D L S L Y N L F L E E N I S p.340
. . . . . . g.56209
GAGGTCAAGTCATACAAGTGTCTTAAGGTACTGGAGAATATTAAGAGCAGTGGTCAGGGG c.1080
E V K S Y K C L K V L E N I K S S G Q G p.360
. . . . . . g.56269
ATCGACCCAATGCTACTCCTGACAAACCTTGGCATGATCAAGATGGATGTTGTTGATGGC c.1140
I D P M L L L T N L G M I K M D V V D G p.380
. . . . . . g.56329
AAAACTCCCATGTCTGCAGAGATGAGAGAGGAGCAGGGGAACCAGACGGCAGAGCTCCAA c.1200
K T P M S A E M R E E Q G N Q T A E L Q p.400
| 05 . . . . . . g.56921
G | GTATGAACATAGACAGTGAAACTAAAGCAAATAATGGAGAGAAGAATGCCCGACAGAGA c.1260
G | M N I D S E T K A N N G E K N A R Q R p.420
. . g.56942
CTTCTGGATTCTTCTTGCTGA c.1281
L L D S S C X p.426
. . . . . . g.57002
tgatttttttccttgagctgtaaatctgtgacttctgcgacatgggatttaatttggcta c.*60
. . . . . . g.57062
aagcacccctgttggtttcacagctggtttgcaataaatggttcttggtggagatactga c.*120
. . . . . . g.57122
gcatgtcttattgagtccctaatggaaatggtgatcaacaaaaggttatggaagaatggt c.*180
. . . . . . g.57182
ttatgaacttcccataggaagcacctgagagatagtaaactgcagcaagtaactatgtgt c.*240
. . . . . . g.57242
aagtcctcatcaaatgaaaagcagaaagacaagaacaattagtcaagagcagtagccctg c.*300
. . . . . . g.57302
tcagagcctcggagcaatacctttctgtacccgtggtgagacaagacccagagctactgg c.*360
. . . . . . g.57362
aaaacaagcactttggaagatttgttttgttttcatggaataataatatgtcagggtata c.*420
. . . . . . g.57422
atttaacgtgagtttcttatgtgcccttaaagactgttagacaagaaaagcattcactgg c.*480
. . . . . . g.57482
ctaataatccataggtcgacctatgtcctaagttaggtgtaaggtccgatgccttggccc c.*540
. . . . . . g.57542
acactcgagctctctttacattgttagttgtcaaccttggctgatggaaatcccgtaacc c.*600
. . . . . . g.57602
actatttgttgcactgtgccttgaagggcagcaggcccaagtgctgctctgactgaaaac c.*660
. . . . . . g.57662
tgagttaacaagatgaaatctaaaggatattcacagtgacttcaattcaggaagaatgct c.*720
. . . . . . g.57722
tccaaaagagcccagtggggaaatctgacatcacagaagacattaattcagtcactttca c.*780
. . . . . . g.57782
aagagtttgtctacaggcggtttctctgttatcaaaggcatttgaaataggattttactt c.*840
. . . . . . g.57842
aaacaataatggaacacaggagtatttaaagtgaagaacactttgcctgaatgtgatcag c.*900
. . . . . . g.57902
ggcacataagtgacattggcatgcttcatatggcgtgcttggagccagaaaaacttagcg c.*960
. . . . . . g.57962
gtttattttgtttatatttaagcacagctttaaaaaattcattatcgtttattcagtgtc c.*1020
. . . . . . g.58022
cgaattgaggccatttgggaagaaaattctagcactggtggagaattatagaataaagat c.*1080
. . g.58045
tataaatggttggataagacaaa c.*1103
(downstream sequence)
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