Canonical Allele Identifier: CA2623118778

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51950322-T-TCCACTGGAAACTTTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950323_51950341dup , CM000675.2:g.51950323_51950341dup	GRCh38
NC_000013.10:g.52524459_52524477dup , CM000675.1:g.52524459_52524477dup	GRCh37
NC_000013.9:g.51422460_51422478dup	NCBI36
NG_008806.1:g.66154_66172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*339_*357dup	ENSP00000489512.2:n.*339_*357dup
ENST00000673864.2:c.*1250_*1268dup	ENSP00000501045.2:n.*1250_*1268dup
ENST00000674147.2:c.2020_2038dup	ENSP00000500964.2:p.Asp680GlyfsTer18
ENST00000242839.10:c.2506_2524dup MANE Select	ENSP00000242839.5:p.Asp842GlyfsTer18
ENST00000344297.9:c.2020_2038dup	ENSP00000342559.5:p.Asp680GlyfsTer18
ENST00000400366.6:c.2173_2191dup	ENSP00000383217.3:p.Asp731GlyfsTer18
ENST00000448424.7:c.2254_2272dup	ENSP00000416738.3:p.Asp758GlyfsTer18
ENST00000673772.1:c.2272_2290dup	ENSP00000501168.1:p.Asp764GlyfsTer18
ENST00000674147.1:c.1576_1594dup	ENSP00000500964.1:p.Asp532GlyfsTer18
ENST00000242839.8:c.2506_2524dup	ENSP00000242839.4:p.Asp842GlyfsTer18
ENST00000344297.8:c.2020_2038dup	ENSP00000342559.5:p.Asp680GlyfsTer18
ENST00000400366.5:c.2173_2191dup	ENSP00000383217.3:p.Asp731GlyfsTer18
ENST00000400370.8:c.1286-180_1286-162dup	ENSP00000383221.3:n.1286-180_1286-162dup
ENST00000418097.7:c.2506_2524dup	ENSP00000393343.2:p.Asp842GlyfsTer18
ENST00000448424.6:c.2272_2290dup	ENSP00000416738.2:p.Asp764GlyfsTer18
ENST00000634296.1:c.467_485dup
ENST00000634308.1:c.2272_2290dup	ENSP00000489234.1:p.Asp764GlyfsTer18
ENST00000634620.1:n.3304_3322dup
ENST00000634810.1:n.1851_1869dup
ENST00000634844.1:c.2362_2380dup	ENSP00000489398.1:p.Asp794GlyfsTer18
ENST00000635406.1:n.212-3863_212-3845dup
NM_000053.3:c.2506_2524dup	NP_000044.2:p.Asp842GlyfsTer18
NM_001005918.2:c.2020_2038dup	NP_001005918.1:p.Asp680GlyfsTer18
NM_001243182.1:c.2173_2191dup	NP_001230111.1:p.Asp731GlyfsTer18
XM_005266423.2:c.2410_2428dup	XP_005266480.1:p.Asp810GlyfsTer18
XM_005266424.3:c.2410_2428dup	XP_005266481.1:p.Asp810GlyfsTer18
XM_005266427.2:c.2272_2290dup	XP_005266484.1:p.Asp764GlyfsTer18
XM_005266428.1:c.2254_2272dup	XP_005266485.1:p.Asp758GlyfsTer18
XM_005266430.3:c.2506_2524dup	XP_005266487.1:p.Asp842GlyfsTer18
XM_005266431.2:c.2470_2488dup	XP_005266488.1:p.Asp830GlyfsTer18
XM_005266432.2:c.2020_2038dup	XP_005266489.1:p.Asp680GlyfsTer18
XM_006719837.2:c.2410_2428dup	XP_006719900.1:p.Asp810GlyfsTer18
XM_006719838.1:c.322_340dup	XP_006719901.1:p.Asp114GlyfsTer18
XM_006719839.1:c.322_340dup	XP_006719902.1:p.Asp114GlyfsTer18
XM_011535117.1:c.2410_2428dup	XP_011533419.1:p.Asp810GlyfsTer18
XM_011535118.1:c.2506_2524dup	XP_011533420.1:p.Asp842GlyfsTer18
XM_011535119.1:c.2506_2524dup	XP_011533421.1:p.Asp842GlyfsTer18
XM_011535120.1:c.2092_2110dup	XP_011533422.1:p.Asp704GlyfsTer18
XM_011535121.1:c.2506_2524dup	XP_011533423.1:p.Asp842GlyfsTer18
XM_011535122.1:c.1174_1192dup	XP_011533424.1:p.Asp398GlyfsTer18
XR_941601.1:n.2725_2743dup
XR_941602.1:n.2725_2743dup
XR_941603.1:n.2725_2743dup
XR_941604.1:n.2725_2743dup
NM_001330578.1:c.2272_2290dup	NP_001317507.1:p.Asp764GlyfsTer18
NM_001330579.1:c.2254_2272dup	NP_001317508.1:p.Asp758GlyfsTer18
XM_005266424.4:c.2410_2428dup	XP_005266481.1:p.Asp810GlyfsTer18
XM_005266430.4:c.2506_2524dup	XP_005266487.1:p.Asp842GlyfsTer18
XM_005266431.4:c.2470_2488dup	XP_005266488.1:p.Asp830GlyfsTer18
XM_006719837.3:c.2410_2428dup	XP_006719900.1:p.Asp810GlyfsTer18
XM_011535117.3:c.2410_2428dup	XP_011533419.1:p.Asp810GlyfsTer18
XM_017020627.1:c.2410_2428dup	XP_016876116.1:p.Asp810GlyfsTer18
NM_000053.4:c.2506_2524dup MANE Select	NP_000044.2:p.Asp842GlyfsTer18
NM_001005918.3:c.2020_2038dup	NP_001005918.1:p.Asp680GlyfsTer18
NM_001330579.2:c.2254_2272dup	NP_001317508.1:p.Asp758GlyfsTer18
NM_001243182.2:c.2173_2191dup	NP_001230111.1:p.Asp731GlyfsTer18
NM_001330578.2:c.2272_2290dup	NP_001317507.1:p.Asp764GlyfsTer18