Canonical Allele Identifier: CA2623115982

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944012-C-CAGAGAAGGCTCCTCGAGGGCAGCTAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944021_51944047dup , CM000675.2:g.51944021_51944047dup	GRCh38
NC_000013.10:g.52518157_52518183dup , CM000675.1:g.52518157_52518183dup	GRCh37
NC_000013.9:g.51416158_51416184dup	NCBI36
NG_008806.1:g.72456_72482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1485_*894-1459dup	ENSP00000489512.2:n.*894-1485_*894-1459dup
ENST00000673864.2:c.*1987+70_*1987+96dup	ENSP00000501045.2:n.*1987+70_*1987+96dup
ENST00000674147.2:c.2622+70_2622+96dup	ENSP00000500964.2:n.2622+70_2622+96dup
ENST00000242839.10:c.3243+70_3243+96dup MANE Select	ENSP00000242839.5:n.3243+70_3243+96dup
ENST00000344297.9:c.2622+70_2622+96dup	ENSP00000342559.5:n.2622+70_2622+96dup
ENST00000400366.6:c.2910+70_2910+96dup	ENSP00000383217.3:n.2910+70_2910+96dup
ENST00000448424.7:c.2991+70_2991+96dup	ENSP00000416738.3:n.2991+70_2991+96dup
ENST00000673772.1:c.3009+70_3009+96dup	ENSP00000501168.1:n.3009+70_3009+96dup
ENST00000673867.1:n.3382+70_3382+96dup
ENST00000674126.1:n.3606+70_3606+96dup
ENST00000674147.1:c.2178+70_2178+96dup	ENSP00000500964.1:n.2178+70_2178+96dup
ENST00000242839.8:c.3243+70_3243+96dup	ENSP00000242839.4:n.3243+70_3243+96dup
ENST00000344297.8:c.2622+70_2622+96dup	ENSP00000342559.5:n.2622+70_2622+96dup
ENST00000400366.5:c.2910+70_2910+96dup	ENSP00000383217.3:n.2910+70_2910+96dup
ENST00000400370.8:c.1953+70_1953+96dup	ENSP00000383221.3:n.1953+70_1953+96dup
ENST00000418097.7:c.3048+70_3048+96dup	ENSP00000393343.2:n.3048+70_3048+96dup
ENST00000448424.6:c.3009+70_3009+96dup	ENSP00000416738.2:n.3009+70_3009+96dup
ENST00000634296.1:c.1022-1485_1022-1459dup
ENST00000634308.1:c.*344+70_*344+96dup	ENSP00000489234.1:n.*344+70_*344+96dup
ENST00000634620.1:n.3987+70_3987+96dup
ENST00000634810.1:n.2588+70_2588+96dup
ENST00000634844.1:c.3099+70_3099+96dup	ENSP00000489398.1:n.3099+70_3099+96dup
NM_000053.3:c.3243+70_3243+96dup	NP_000044.2:n.3243+70_3243+96dup
NM_001005918.2:c.2622+70_2622+96dup	NP_001005918.1:n.2622+70_2622+96dup
NM_001243182.1:c.2910+70_2910+96dup	NP_001230111.1:n.2910+70_2910+96dup
XM_005266423.2:c.3147+70_3147+96dup	XP_005266480.1:n.3147+70_3147+96dup
XM_005266424.3:c.3147+70_3147+96dup	XP_005266481.1:n.3147+70_3147+96dup
XM_005266427.2:c.3009+70_3009+96dup	XP_005266484.1:n.3009+70_3009+96dup
XM_005266428.1:c.2991+70_2991+96dup	XP_005266485.1:n.2991+70_2991+96dup
XM_005266430.3:c.3243+70_3243+96dup	XP_005266487.1:n.3243+70_3243+96dup
XM_005266431.2:c.3207+70_3207+96dup	XP_005266488.1:n.3207+70_3207+96dup
XM_005266432.2:c.2757+70_2757+96dup	XP_005266489.1:n.2757+70_2757+96dup
XM_006719837.2:c.3147+70_3147+96dup	XP_006719900.1:n.3147+70_3147+96dup
XM_006719838.1:c.1059+70_1059+96dup	XP_006719901.1:n.1059+70_1059+96dup
XM_006719839.1:c.877-1485_877-1459dup	XP_006719902.1:n.877-1485_877-1459dup
XM_011535117.1:c.3147+70_3147+96dup	XP_011533419.1:n.3147+70_3147+96dup
XM_011535118.1:c.3108+70_3108+96dup	XP_011533420.1:n.3108+70_3108+96dup
XM_011535119.1:c.3061-1485_3061-1459dup	XP_011533421.1:n.3061-1485_3061-1459dup
XM_011535120.1:c.2829+70_2829+96dup	XP_011533422.1:n.2829+70_2829+96dup
XM_011535121.1:c.2731-1485_2731-1459dup	XP_011533423.1:n.2731-1485_2731-1459dup
XM_011535122.1:c.1911+70_1911+96dup	XP_011533424.1:n.1911+70_1911+96dup
XR_941601.1:n.3462+70_3462+96dup
XR_941602.1:n.3462+70_3462+96dup
XR_941603.1:n.3462+70_3462+96dup
XR_941604.1:n.3462+70_3462+96dup
NM_001330578.1:c.3009+70_3009+96dup	NP_001317507.1:n.3009+70_3009+96dup
NM_001330579.1:c.2991+70_2991+96dup	NP_001317508.1:n.2991+70_2991+96dup
XM_005266424.4:c.3147+70_3147+96dup	XP_005266481.1:n.3147+70_3147+96dup
XM_005266430.4:c.3243+70_3243+96dup	XP_005266487.1:n.3243+70_3243+96dup
XM_005266431.4:c.3207+70_3207+96dup	XP_005266488.1:n.3207+70_3207+96dup
XM_006719837.3:c.3147+70_3147+96dup	XP_006719900.1:n.3147+70_3147+96dup
XM_011535117.3:c.3147+70_3147+96dup	XP_011533419.1:n.3147+70_3147+96dup
XM_017020627.1:c.3147+70_3147+96dup	XP_016876116.1:n.3147+70_3147+96dup
NM_000053.4:c.3243+70_3243+96dup MANE Select	NP_000044.2:n.3243+70_3243+96dup
NM_001005918.3:c.2622+70_2622+96dup	NP_001005918.1:n.2622+70_2622+96dup
NM_001330579.2:c.2991+70_2991+96dup	NP_001317508.1:n.2991+70_2991+96dup
NM_001243182.2:c.2910+70_2910+96dup	NP_001230111.1:n.2910+70_2910+96dup
NM_001330578.2:c.3009+70_3009+96dup	NP_001317507.1:n.3009+70_3009+96dup