Canonical Allele Identifier: CA2091563566

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957501464

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944049_51944059dup , CM000675.2:g.51944049_51944059dup	GRCh38
NC_000013.10:g.52518185_52518195dup , CM000675.1:g.52518185_52518195dup	GRCh37
NC_000013.9:g.51416186_51416196dup	NCBI36
NG_008806.1:g.72440_72450dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1501_*894-1491dup	ENSP00000489512.2:n.*894-1501_*894-1491dup
ENST00000673864.2:c.*1987+54_*1987+64dup	ENSP00000501045.2:n.*1987+54_*1987+64dup
ENST00000674147.2:c.2622+54_2622+64dup	ENSP00000500964.2:n.2622+54_2622+64dup
ENST00000242839.10:c.3243+54_3243+64dup MANE Select	ENSP00000242839.5:n.3243+54_3243+64dup
ENST00000344297.9:c.2622+54_2622+64dup	ENSP00000342559.5:n.2622+54_2622+64dup
ENST00000400366.6:c.2910+54_2910+64dup	ENSP00000383217.3:n.2910+54_2910+64dup
ENST00000448424.7:c.2991+54_2991+64dup	ENSP00000416738.3:n.2991+54_2991+64dup
ENST00000673772.1:c.3009+54_3009+64dup	ENSP00000501168.1:n.3009+54_3009+64dup
ENST00000673867.1:n.3382+54_3382+64dup
ENST00000674126.1:n.3606+54_3606+64dup
ENST00000674147.1:c.2178+54_2178+64dup	ENSP00000500964.1:n.2178+54_2178+64dup
ENST00000242839.8:c.3243+54_3243+64dup	ENSP00000242839.4:n.3243+54_3243+64dup
ENST00000344297.8:c.2622+54_2622+64dup	ENSP00000342559.5:n.2622+54_2622+64dup
ENST00000400366.5:c.2910+54_2910+64dup	ENSP00000383217.3:n.2910+54_2910+64dup
ENST00000400370.8:c.1953+54_1953+64dup	ENSP00000383221.3:n.1953+54_1953+64dup
ENST00000418097.7:c.3048+54_3048+64dup	ENSP00000393343.2:n.3048+54_3048+64dup
ENST00000448424.6:c.3009+54_3009+64dup	ENSP00000416738.2:n.3009+54_3009+64dup
ENST00000634296.1:c.1022-1501_1022-1491dup
ENST00000634308.1:c.*344+54_*344+64dup	ENSP00000489234.1:n.*344+54_*344+64dup
ENST00000634620.1:n.3987+54_3987+64dup
ENST00000634810.1:n.2588+54_2588+64dup
ENST00000634844.1:c.3099+54_3099+64dup	ENSP00000489398.1:n.3099+54_3099+64dup
NM_000053.3:c.3243+54_3243+64dup	NP_000044.2:n.3243+54_3243+64dup
NM_001005918.2:c.2622+54_2622+64dup	NP_001005918.1:n.2622+54_2622+64dup
NM_001243182.1:c.2910+54_2910+64dup	NP_001230111.1:n.2910+54_2910+64dup
XM_005266423.2:c.3147+54_3147+64dup	XP_005266480.1:n.3147+54_3147+64dup
XM_005266424.3:c.3147+54_3147+64dup	XP_005266481.1:n.3147+54_3147+64dup
XM_005266427.2:c.3009+54_3009+64dup	XP_005266484.1:n.3009+54_3009+64dup
XM_005266428.1:c.2991+54_2991+64dup	XP_005266485.1:n.2991+54_2991+64dup
XM_005266430.3:c.3243+54_3243+64dup	XP_005266487.1:n.3243+54_3243+64dup
XM_005266431.2:c.3207+54_3207+64dup	XP_005266488.1:n.3207+54_3207+64dup
XM_005266432.2:c.2757+54_2757+64dup	XP_005266489.1:n.2757+54_2757+64dup
XM_006719837.2:c.3147+54_3147+64dup	XP_006719900.1:n.3147+54_3147+64dup
XM_006719838.1:c.1059+54_1059+64dup	XP_006719901.1:n.1059+54_1059+64dup
XM_006719839.1:c.877-1501_877-1491dup	XP_006719902.1:n.877-1501_877-1491dup
XM_011535117.1:c.3147+54_3147+64dup	XP_011533419.1:n.3147+54_3147+64dup
XM_011535118.1:c.3108+54_3108+64dup	XP_011533420.1:n.3108+54_3108+64dup
XM_011535119.1:c.3061-1501_3061-1491dup	XP_011533421.1:n.3061-1501_3061-1491dup
XM_011535120.1:c.2829+54_2829+64dup	XP_011533422.1:n.2829+54_2829+64dup
XM_011535121.1:c.2731-1501_2731-1491dup	XP_011533423.1:n.2731-1501_2731-1491dup
XM_011535122.1:c.1911+54_1911+64dup	XP_011533424.1:n.1911+54_1911+64dup
XR_941601.1:n.3462+54_3462+64dup
XR_941602.1:n.3462+54_3462+64dup
XR_941603.1:n.3462+54_3462+64dup
XR_941604.1:n.3462+54_3462+64dup
NM_001330578.1:c.3009+54_3009+64dup	NP_001317507.1:n.3009+54_3009+64dup
NM_001330579.1:c.2991+54_2991+64dup	NP_001317508.1:n.2991+54_2991+64dup
XM_005266424.4:c.3147+54_3147+64dup	XP_005266481.1:n.3147+54_3147+64dup
XM_005266430.4:c.3243+54_3243+64dup	XP_005266487.1:n.3243+54_3243+64dup
XM_005266431.4:c.3207+54_3207+64dup	XP_005266488.1:n.3207+54_3207+64dup
XM_006719837.3:c.3147+54_3147+64dup	XP_006719900.1:n.3147+54_3147+64dup
XM_011535117.3:c.3147+54_3147+64dup	XP_011533419.1:n.3147+54_3147+64dup
XM_017020627.1:c.3147+54_3147+64dup	XP_016876116.1:n.3147+54_3147+64dup
NM_000053.4:c.3243+54_3243+64dup MANE Select	NP_000044.2:n.3243+54_3243+64dup
NM_001005918.3:c.2622+54_2622+64dup	NP_001005918.1:n.2622+54_2622+64dup
NM_001330579.2:c.2991+54_2991+64dup	NP_001317508.1:n.2991+54_2991+64dup
NM_001243182.2:c.2910+54_2910+64dup	NP_001230111.1:n.2910+54_2910+64dup
NM_001330578.2:c.3009+54_3009+64dup	NP_001317507.1:n.3009+54_3009+64dup