Canonical Allele Identifier: CA2739291796

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944103_51944109del , CM000675.2:g.51944103_51944109del	GRCh38
NC_000013.10:g.52518239_52518245del , CM000675.1:g.52518239_52518245del	GRCh37
NC_000013.9:g.51416240_51416246del	NCBI36
NG_008806.1:g.72388_72394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1553_*894-1547del	ENSP00000489512.2:n.*894-1553_*894-1547del
ENST00000673864.2:c.*1987+2_*1987+8del
ENST00000674147.2:c.2622+2_2622+8del
ENST00000242839.10:c.3243+2_3243+8del
ENST00000344297.9:c.2622+2_2622+8del
ENST00000400366.6:c.2910+2_2910+8del
ENST00000448424.7:c.2991+2_2991+8del
ENST00000673772.1:c.3009+2_3009+8del
ENST00000673867.1:n.3382+2_3382+8del
ENST00000674126.1:n.3606+2_3606+8del
ENST00000674147.1:c.2178+2_2178+8del
ENST00000242839.8:c.3243+2_3243+8del
ENST00000344297.8:c.2622+2_2622+8del
ENST00000400366.5:c.2910+2_2910+8del
ENST00000400370.8:c.1953+2_1953+8del
ENST00000418097.7:c.3048+2_3048+8del
ENST00000448424.6:c.3009+2_3009+8del
ENST00000634296.1:c.1022-1553_1022-1547del
ENST00000634308.1:c.*344+2_*344+8del
ENST00000634620.1:n.3987+2_3987+8del
ENST00000634810.1:n.2588+2_2588+8del
ENST00000634844.1:c.3099+2_3099+8del
NM_000053.3:c.3243+2_3243+8del
NM_001005918.2:c.2622+2_2622+8del
NM_001243182.1:c.2910+2_2910+8del
XM_005266423.2:c.3147+2_3147+8del
XM_005266424.3:c.3147+2_3147+8del
XM_005266427.2:c.3009+2_3009+8del
XM_005266428.1:c.2991+2_2991+8del
XM_005266430.3:c.3243+2_3243+8del
XM_005266431.2:c.3207+2_3207+8del
XM_005266432.2:c.2757+2_2757+8del
XM_006719837.2:c.3147+2_3147+8del
XM_006719838.1:c.1059+2_1059+8del
XM_006719839.1:c.877-1553_877-1547del	XP_006719902.1:n.877-1553_877-1547del
XM_011535117.1:c.3147+2_3147+8del
XM_011535118.1:c.3108+2_3108+8del
XM_011535119.1:c.3061-1553_3061-1547del	XP_011533421.1:n.3061-1553_3061-1547del
XM_011535120.1:c.2829+2_2829+8del
XM_011535121.1:c.2731-1553_2731-1547del	XP_011533423.1:n.2731-1553_2731-1547del
XM_011535122.1:c.1911+2_1911+8del
XR_941601.1:n.3462+2_3462+8del
XR_941602.1:n.3462+2_3462+8del
XR_941603.1:n.3462+2_3462+8del
XR_941604.1:n.3462+2_3462+8del
NM_001330578.1:c.3009+2_3009+8del
NM_001330579.1:c.2991+2_2991+8del
XM_005266424.4:c.3147+2_3147+8del
XM_005266430.4:c.3243+2_3243+8del
XM_005266431.4:c.3207+2_3207+8del
XM_006719837.3:c.3147+2_3147+8del
XM_011535117.3:c.3147+2_3147+8del
XM_017020627.1:c.3147+2_3147+8del
NM_000053.4:c.3243+2_3243+8del
NM_001005918.3:c.2622+2_2622+8del
NM_001330579.2:c.2991+2_2991+8del
NM_001243182.2:c.2910+2_2910+8del
NM_001330578.2:c.3009+2_3009+8del