Canonical Allele Identifier: CA2091563556

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944041_51944044delinsGAGA , CM000675.2:g.51944041_51944044delinsGAGA	GRCh38
NC_000013.10:g.52518177_52518180delinsGAGA , CM000675.1:g.52518177_52518180delinsGAGA	GRCh37
NC_000013.9:g.51416178_51416181delinsGAGA	NCBI36
NG_008806.1:g.72451_72454delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1490_*894-1487delinsTCTC	ENSP00000489512.2:n.*894-1490_*894-1487delinsTCTC
ENST00000673864.2:c.*1987+65_*1987+68delinsTCTC	ENSP00000501045.2:n.*1987+65_*1987+68delinsTCTC
ENST00000674147.2:c.2622+65_2622+68delinsTCTC	ENSP00000500964.2:n.2622+65_2622+68delinsTCTC
ENST00000242839.10:c.3243+65_3243+68delinsTCTC MANE Select	ENSP00000242839.5:n.3243+65_3243+68delinsTCTC
ENST00000344297.9:c.2622+65_2622+68delinsTCTC	ENSP00000342559.5:n.2622+65_2622+68delinsTCTC
ENST00000400366.6:c.2910+65_2910+68delinsTCTC	ENSP00000383217.3:n.2910+65_2910+68delinsTCTC
ENST00000448424.7:c.2991+65_2991+68delinsTCTC	ENSP00000416738.3:n.2991+65_2991+68delinsTCTC
ENST00000673772.1:c.3009+65_3009+68delinsTCTC	ENSP00000501168.1:n.3009+65_3009+68delinsTCTC
ENST00000673867.1:n.3382+65_3382+68delinsTCTC
ENST00000674126.1:n.3606+65_3606+68delinsTCTC
ENST00000674147.1:c.2178+65_2178+68delinsTCTC	ENSP00000500964.1:n.2178+65_2178+68delinsTCTC
ENST00000242839.8:c.3243+65_3243+68delinsTCTC	ENSP00000242839.4:n.3243+65_3243+68delinsTCTC
ENST00000344297.8:c.2622+65_2622+68delinsTCTC	ENSP00000342559.5:n.2622+65_2622+68delinsTCTC
ENST00000400366.5:c.2910+65_2910+68delinsTCTC	ENSP00000383217.3:n.2910+65_2910+68delinsTCTC
ENST00000400370.8:c.1953+65_1953+68delinsTCTC	ENSP00000383221.3:n.1953+65_1953+68delinsTCTC
ENST00000418097.7:c.3048+65_3048+68delinsTCTC	ENSP00000393343.2:n.3048+65_3048+68delinsTCTC
ENST00000448424.6:c.3009+65_3009+68delinsTCTC	ENSP00000416738.2:n.3009+65_3009+68delinsTCTC
ENST00000634296.1:c.1022-1490_1022-1487delinsTCTC
ENST00000634308.1:c.*344+65_*344+68delinsTCTC	ENSP00000489234.1:n.*344+65_*344+68delinsTCTC
ENST00000634620.1:n.3987+65_3987+68delinsTCTC
ENST00000634810.1:n.2588+65_2588+68delinsTCTC
ENST00000634844.1:c.3099+65_3099+68delinsTCTC	ENSP00000489398.1:n.3099+65_3099+68delinsTCTC
NM_000053.3:c.3243+65_3243+68delinsTCTC	NP_000044.2:n.3243+65_3243+68delinsTCTC
NM_001005918.2:c.2622+65_2622+68delinsTCTC	NP_001005918.1:n.2622+65_2622+68delinsTCTC
NM_001243182.1:c.2910+65_2910+68delinsTCTC	NP_001230111.1:n.2910+65_2910+68delinsTCTC
XM_005266423.2:c.3147+65_3147+68delinsTCTC	XP_005266480.1:n.3147+65_3147+68delinsTCTC
XM_005266424.3:c.3147+65_3147+68delinsTCTC	XP_005266481.1:n.3147+65_3147+68delinsTCTC
XM_005266427.2:c.3009+65_3009+68delinsTCTC	XP_005266484.1:n.3009+65_3009+68delinsTCTC
XM_005266428.1:c.2991+65_2991+68delinsTCTC	XP_005266485.1:n.2991+65_2991+68delinsTCTC
XM_005266430.3:c.3243+65_3243+68delinsTCTC	XP_005266487.1:n.3243+65_3243+68delinsTCTC
XM_005266431.2:c.3207+65_3207+68delinsTCTC	XP_005266488.1:n.3207+65_3207+68delinsTCTC
XM_005266432.2:c.2757+65_2757+68delinsTCTC	XP_005266489.1:n.2757+65_2757+68delinsTCTC
XM_006719837.2:c.3147+65_3147+68delinsTCTC	XP_006719900.1:n.3147+65_3147+68delinsTCTC
XM_006719838.1:c.1059+65_1059+68delinsTCTC	XP_006719901.1:n.1059+65_1059+68delinsTCTC
XM_006719839.1:c.877-1490_877-1487delinsTCTC	XP_006719902.1:n.877-1490_877-1487delinsTCTC
XM_011535117.1:c.3147+65_3147+68delinsTCTC	XP_011533419.1:n.3147+65_3147+68delinsTCTC
XM_011535118.1:c.3108+65_3108+68delinsTCTC	XP_011533420.1:n.3108+65_3108+68delinsTCTC
XM_011535119.1:c.3061-1490_3061-1487delinsTCTC	XP_011533421.1:n.3061-1490_3061-1487delinsTCTC
XM_011535120.1:c.2829+65_2829+68delinsTCTC	XP_011533422.1:n.2829+65_2829+68delinsTCTC
XM_011535121.1:c.2731-1490_2731-1487delinsTCTC	XP_011533423.1:n.2731-1490_2731-1487delinsTCTC
XM_011535122.1:c.1911+65_1911+68delinsTCTC	XP_011533424.1:n.1911+65_1911+68delinsTCTC
XR_941601.1:n.3462+65_3462+68delinsTCTC
XR_941602.1:n.3462+65_3462+68delinsTCTC
XR_941603.1:n.3462+65_3462+68delinsTCTC
XR_941604.1:n.3462+65_3462+68delinsTCTC
NM_001330578.1:c.3009+65_3009+68delinsTCTC	NP_001317507.1:n.3009+65_3009+68delinsTCTC
NM_001330579.1:c.2991+65_2991+68delinsTCTC	NP_001317508.1:n.2991+65_2991+68delinsTCTC
XM_005266424.4:c.3147+65_3147+68delinsTCTC	XP_005266481.1:n.3147+65_3147+68delinsTCTC
XM_005266430.4:c.3243+65_3243+68delinsTCTC	XP_005266487.1:n.3243+65_3243+68delinsTCTC
XM_005266431.4:c.3207+65_3207+68delinsTCTC	XP_005266488.1:n.3207+65_3207+68delinsTCTC
XM_006719837.3:c.3147+65_3147+68delinsTCTC	XP_006719900.1:n.3147+65_3147+68delinsTCTC
XM_011535117.3:c.3147+65_3147+68delinsTCTC	XP_011533419.1:n.3147+65_3147+68delinsTCTC
XM_017020627.1:c.3147+65_3147+68delinsTCTC	XP_016876116.1:n.3147+65_3147+68delinsTCTC
NM_000053.4:c.3243+65_3243+68delinsTCTC MANE Select	NP_000044.2:n.3243+65_3243+68delinsTCTC
NM_001005918.3:c.2622+65_2622+68delinsTCTC	NP_001005918.1:n.2622+65_2622+68delinsTCTC
NM_001330579.2:c.2991+65_2991+68delinsTCTC	NP_001317508.1:n.2991+65_2991+68delinsTCTC
NM_001243182.2:c.2910+65_2910+68delinsTCTC	NP_001230111.1:n.2910+65_2910+68delinsTCTC
NM_001330578.2:c.3009+65_3009+68delinsTCTC	NP_001317507.1:n.3009+65_3009+68delinsTCTC