Canonical Allele Identifier: CA2573053842

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2573458
• ClinVar RCV Id: RCV003317794
• dbSNP Id: rs2139201690

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950023_51950049del , CM000675.2:g.51950023_51950049del	GRCh38
NC_000013.10:g.52524159_52524185del , CM000675.1:g.52524159_52524185del	GRCh37
NC_000013.9:g.51422160_51422186del	NCBI36
NG_008806.1:g.66455_66481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*530_*556del	ENSP00000489512.2:n.*530_*556del
ENST00000673864.2:c.*1441_*1467del	ENSP00000501045.2:n.*1441_*1467del
ENST00000674147.2:c.2211_2237del	ENSP00000500964.2:p.Ile737_Gln745del
ENST00000242839.10:c.2697_2723del MANE Select	ENSP00000242839.5:p.Ile899_Gln907del
ENST00000344297.9:c.2211_2237del	ENSP00000342559.5:p.Ile737_Gln745del
ENST00000400366.6:c.2364_2390del	ENSP00000383217.3:p.Ile788_Gln796del
ENST00000448424.7:c.2445_2471del	ENSP00000416738.3:p.Ile815_Gln823del
ENST00000673772.1:c.2463_2489del	ENSP00000501168.1:p.Ile821_Gln829del
ENST00000674147.1:c.1767_1793del	ENSP00000500964.1:p.Ile589_Gln597del
ENST00000242839.8:c.2697_2723del	ENSP00000242839.4:p.Ile899_Gln907del
ENST00000344297.8:c.2211_2237del	ENSP00000342559.5:p.Ile737_Gln745del
ENST00000400366.5:c.2364_2390del	ENSP00000383217.3:p.Ile788_Gln796del
ENST00000400370.8:c.1407_1433del	ENSP00000383221.3:p.Ile469_Gln477del
ENST00000418097.7:c.2697_2723del	ENSP00000393343.2:p.Ile899_Gln907del
ENST00000448424.6:c.2463_2489del	ENSP00000416738.2:p.Ile821_Gln829del
ENST00000634296.1:c.658_684del
ENST00000634308.1:c.2463_2489del	ENSP00000489234.1:p.Ile821_Gln829del
ENST00000634620.1:n.3495_3521del
ENST00000634810.1:n.2042_2068del
ENST00000634844.1:c.2553_2579del	ENSP00000489398.1:p.Ile851_Gln859del
ENST00000635406.1:n.212-3562_212-3536del
NM_000053.3:c.2697_2723del	NP_000044.2:p.Ile899_Gln907del
NM_001005918.2:c.2211_2237del	NP_001005918.1:p.Ile737_Gln745del
NM_001243182.1:c.2364_2390del	NP_001230111.1:p.Ile788_Gln796del
XM_005266423.2:c.2601_2627del	XP_005266480.1:p.Ile867_Gln875del
XM_005266424.3:c.2601_2627del	XP_005266481.1:p.Ile867_Gln875del
XM_005266427.2:c.2463_2489del	XP_005266484.1:p.Ile821_Gln829del
XM_005266428.1:c.2445_2471del	XP_005266485.1:p.Ile815_Gln823del
XM_005266430.3:c.2697_2723del	XP_005266487.1:p.Ile899_Gln907del
XM_005266431.2:c.2661_2687del	XP_005266488.1:p.Ile887_Gln895del
XM_005266432.2:c.2211_2237del	XP_005266489.1:p.Ile737_Gln745del
XM_006719837.2:c.2601_2627del	XP_006719900.1:p.Ile867_Gln875del
XM_006719838.1:c.513_539del	XP_006719901.1:p.Ile171_Gln179del
XM_006719839.1:c.513_539del	XP_006719902.1:p.Ile171_Gln179del
XM_011535117.1:c.2601_2627del	XP_011533419.1:p.Ile867_Gln875del
XM_011535118.1:c.2697_2723del	XP_011533420.1:p.Ile899_Gln907del
XM_011535119.1:c.2697_2723del	XP_011533421.1:p.Ile899_Gln907del
XM_011535120.1:c.2283_2309del	XP_011533422.1:p.Ile761_Gln769del
XM_011535121.1:c.2697_2723del	XP_011533423.1:p.Ile899_Gln907del
XM_011535122.1:c.1365_1391del	XP_011533424.1:p.Ile455_Gln463del
XR_941601.1:n.2916_2942del
XR_941602.1:n.2916_2942del
XR_941603.1:n.2916_2942del
XR_941604.1:n.2916_2942del
NM_001330578.1:c.2463_2489del	NP_001317507.1:p.Ile821_Gln829del
NM_001330579.1:c.2445_2471del	NP_001317508.1:p.Ile815_Gln823del
XM_005266424.4:c.2601_2627del	XP_005266481.1:p.Ile867_Gln875del
XM_005266430.4:c.2697_2723del	XP_005266487.1:p.Ile899_Gln907del
XM_005266431.4:c.2661_2687del	XP_005266488.1:p.Ile887_Gln895del
XM_006719837.3:c.2601_2627del	XP_006719900.1:p.Ile867_Gln875del
XM_011535117.3:c.2601_2627del	XP_011533419.1:p.Ile867_Gln875del
XM_017020627.1:c.2601_2627del	XP_016876116.1:p.Ile867_Gln875del
NM_000053.4:c.2697_2723del MANE Select	NP_000044.2:p.Ile899_Gln907del
NM_001005918.3:c.2211_2237del	NP_001005918.1:p.Ile737_Gln745del
NM_001330579.2:c.2445_2471del	NP_001317508.1:p.Ile815_Gln823del
NM_001243182.2:c.2364_2390del	NP_001230111.1:p.Ile788_Gln796del
NM_001330578.2:c.2463_2489del	NP_001317507.1:p.Ile821_Gln829del