Canonical Allele Identifier: CA645563694
Gene: ANK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41668404_41668405insT , CM000670.2:g.41668404_41668405insT GRCh38
NC_000008.10:g.41525922_41525923insT , CM000670.1:g.41525922_41525923insT GRCh37
NC_000008.9:g.41645079_41645080insT NCBI36
NG_012820.1:g.233358_233359insA
NG_012820.2:g.233358_233359insA

Transcript Alleles

HGVS Amino-acid change
ENST00000265709.14:c.5379_5380insA ENSP00000265709.8:p.Val1794SerfsTer7
ENST00000705521.1:c.5475_5476insA ENSP00000516136.1:p.Val1826SerfsTer7
ENST00000705522.1:c.5292_5293insA ENSP00000516137.1:p.Val1765SerfsTer7
ENST00000265709.13:c.5379_5380insA ENSP00000265709.8:p.Val1794SerfsTer7
ENST00000289734.13:c.5256_5257insA MANE Select ENSP00000289734.8:p.Val1753SerfsTer7
ENST00000645531.1:c.1270_1271insA
ENST00000265709.12:c.5379_5380insA ENSP00000265709.8:p.Val1794SerfsTer7
ENST00000289734.11:c.5256_5257insA ENSP00000289734.7:p.Val1753SerfsTer7
ENST00000347528.8:c.5256_5257insA ENSP00000339620.4:p.Val1753SerfsTer7
ENST00000518061.1:c.828_829insA
ENST00000520299.5:c.2734_2735insA
ENST00000524227.5:n.2650_2651insA
NM_000037.3:c.5256_5257insA NP_000028.3:p.Val1753SerfsTer7
NM_001142446.1:c.5379_5380insA NP_001135918.1:p.Val1794SerfsTer7
NM_020475.2:c.5256_5257insA NP_065208.2:p.Val1753SerfsTer7
NM_020476.2:c.5256_5257insA NP_065209.2:p.Val1753SerfsTer7
NM_020477.2:c.4770_4771insA NP_065210.2:p.Val1591SerfsTer7
XM_005273476.3:c.5379_5380insA XP_005273533.1:p.Val1794SerfsTer7
XM_011544490.1:c.5520_5521insA XP_011542792.1:p.Val1841SerfsTer7
XM_011544491.1:c.5520_5521insA XP_011542793.1:p.Val1841SerfsTer7
XM_011544492.1:c.5421_5422insA XP_011542794.1:p.Val1808SerfsTer7
XM_011544493.1:c.5520_5521insA XP_011542795.1:p.Val1841SerfsTer7
XM_011544494.1:c.5475_5476insA XP_011542796.1:p.Val1826SerfsTer7
XM_011544495.1:c.5475_5476insA XP_011542797.1:p.Val1826SerfsTer7
XM_011544496.1:c.5520_5521insA XP_011542798.1:p.Val1841SerfsTer7
XM_011544497.1:c.5355_5356insA XP_011542799.1:p.Val1786SerfsTer7
XM_011544498.1:c.5337_5338insA XP_011542800.1:p.Val1780SerfsTer7
XM_011544499.1:c.5520_5521insA XP_011542801.1:p.Val1841SerfsTer7
XM_011544500.1:c.5355_5356insA XP_011542802.1:p.Val1786SerfsTer7
XM_011544501.1:c.5355_5356insA XP_011542803.1:p.Val1786SerfsTer7
XM_011544502.1:c.5355_5356insA XP_011542804.1:p.Val1786SerfsTer7
XM_011544503.1:c.4989_4990insA XP_011542805.1:p.Val1664SerfsTer7
XM_011544504.1:c.4869_4870insA XP_011542806.1:p.Val1624SerfsTer7
XM_011544505.1:c.4869_4870insA XP_011542807.1:p.Val1624SerfsTer7
XM_011544506.1:c.*37_*38insA XP_011542808.1:n.*37_*38insA
XR_949389.1:n.5111_5112insA
XM_005273476.4:c.5379_5380insA XP_005273533.1:p.Val1794SerfsTer7
XM_011544490.3:c.5520_5521insA XP_011542792.1:p.Val1841SerfsTer7
XM_011544491.3:c.5520_5521insA XP_011542793.1:p.Val1841SerfsTer7
XM_011544494.3:c.5475_5476insA XP_011542796.1:p.Val1826SerfsTer7
XM_011544495.3:c.5475_5476insA XP_011542797.1:p.Val1826SerfsTer7
XM_011544496.3:c.5520_5521insA XP_011542798.1:p.Val1841SerfsTer7
XM_011544500.2:c.5355_5356insA XP_011542802.1:p.Val1786SerfsTer7
XM_011544501.2:c.5355_5356insA XP_011542803.1:p.Val1786SerfsTer7
XM_011544502.2:c.5355_5356insA XP_011542804.1:p.Val1786SerfsTer7
XM_011544503.3:c.4989_4990insA XP_011542805.1:p.Val1664SerfsTer7
XM_011544504.2:c.4869_4870insA XP_011542806.1:p.Val1624SerfsTer7
XM_011544505.2:c.4869_4870insA XP_011542807.1:p.Val1624SerfsTer7
XM_017013319.2:c.5496_5497insA XP_016868808.1:p.Val1833SerfsTer7
XM_017013320.2:c.5520_5521insA XP_016868809.1:p.Val1841SerfsTer7
XM_017013321.1:c.5433_5434insA XP_016868810.1:p.Val1812SerfsTer7
XM_017013322.1:c.5424_5425insA XP_016868811.1:p.Val1809SerfsTer7
XM_017013323.1:c.5421_5422insA XP_016868812.1:p.Val1808SerfsTer7
XM_017013324.1:c.5379_5380insA XP_016868813.1:p.Val1794SerfsTer7
XM_017013325.1:c.5337_5338insA XP_016868814.1:p.Val1780SerfsTer7
XM_017013326.1:c.5292_5293insA XP_016868815.1:p.Val1765SerfsTer7
XM_017013327.2:c.5034_5035insA XP_016868816.1:p.Val1679SerfsTer7
XM_017013328.2:c.4989_4990insA XP_016868817.1:p.Val1664SerfsTer7
XM_017013329.1:c.4893_4894insA XP_016868818.1:p.Val1632SerfsTer7
XM_024447128.1:c.5325_5326insA XP_024302896.1:p.Val1776SerfsTer7
NM_000037.4:c.5256_5257insA MANE Select NP_000028.3:p.Val1753SerfsTer7
NM_001142446.2:c.5379_5380insA NP_001135918.1:p.Val1794SerfsTer7
NM_020475.3:c.5256_5257insA NP_065208.2:p.Val1753SerfsTer7
NM_020476.3:c.5256_5257insA NP_065209.2:p.Val1753SerfsTer7
NM_020477.3:c.4770_4771insA NP_065210.2:p.Val1591SerfsTer7