Canonical Allele Identifier: CA2091552245

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960710_51960711delinsGA , CM000675.2:g.51960710_51960711delinsGA	GRCh38
NC_000013.10:g.52534846_52534847delinsGA , CM000675.1:g.52534846_52534847delinsGA	GRCh37
NC_000013.9:g.51432847_51432848delinsGA	NCBI36
NG_008806.1:g.55784_55785delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1946+1126_1946+1127delinsTC	ENSP00000489512.2:n.1946+1126_1946+1127delinsTC
ENST00000673864.2:c.*691-389_*691-388delinsTC	ENSP00000501045.2:n.*691-389_*691-388delinsTC
ENST00000674147.2:c.1870-3104_1870-3103delinsTC	ENSP00000500964.2:n.1870-3104_1870-3103delinsTC
ENST00000242839.10:c.1947-389_1947-388delinsTC MANE Select	ENSP00000242839.5:n.1947-389_1947-388delinsTC
ENST00000344297.9:c.1870-3104_1870-3103delinsTC	ENSP00000342559.5:n.1870-3104_1870-3103delinsTC
ENST00000400366.6:c.1614-389_1614-388delinsTC	ENSP00000383217.3:n.1614-389_1614-388delinsTC
ENST00000448424.7:c.1870-2167_1870-2166delinsTC	ENSP00000416738.3:n.1870-2167_1870-2166delinsTC
ENST00000673772.1:c.1947-389_1947-388delinsTC	ENSP00000501168.1:n.1947-389_1947-388delinsTC
ENST00000674147.1:c.1426-3104_1426-3103delinsTC	ENSP00000500964.1:n.1426-3104_1426-3103delinsTC
ENST00000242839.8:c.1947-389_1947-388delinsTC	ENSP00000242839.4:n.1947-389_1947-388delinsTC
ENST00000344297.8:c.1870-3104_1870-3103delinsTC	ENSP00000342559.5:n.1870-3104_1870-3103delinsTC
ENST00000400366.5:c.1614-389_1614-388delinsTC	ENSP00000383217.3:n.1614-389_1614-388delinsTC
ENST00000400370.8:c.1286-10550_1286-10549delinsTC	ENSP00000383221.3:n.1286-10550_1286-10549delinsTC
ENST00000418097.7:c.1947-389_1947-388delinsTC	ENSP00000393343.2:n.1947-389_1947-388delinsTC
ENST00000448424.6:c.1947-389_1947-388delinsTC	ENSP00000416738.2:n.1947-389_1947-388delinsTC
ENST00000482841.6:n.1665-2167_1665-2166delinsTC
ENST00000634296.1:c.82+1126_82+1127delinsTC
ENST00000634308.1:c.1947-389_1947-388delinsTC	ENSP00000489234.1:n.1947-389_1947-388delinsTC
ENST00000634620.1:n.439-389_439-388delinsTC
ENST00000634844.1:c.1947-389_1947-388delinsTC	ENSP00000489398.1:n.1947-389_1947-388delinsTC
ENST00000635406.1:n.212-14233_212-14232delinsTC
NM_000053.3:c.1947-389_1947-388delinsTC	NP_000044.2:n.1947-389_1947-388delinsTC
NM_001005918.2:c.1870-3104_1870-3103delinsTC	NP_001005918.1:n.1870-3104_1870-3103delinsTC
NM_001243182.1:c.1614-389_1614-388delinsTC	NP_001230111.1:n.1614-389_1614-388delinsTC
XM_005266423.2:c.1851-389_1851-388delinsTC	XP_005266480.1:n.1851-389_1851-388delinsTC
XM_005266424.3:c.1851-389_1851-388delinsTC	XP_005266481.1:n.1851-389_1851-388delinsTC
XM_005266427.2:c.1947-389_1947-388delinsTC	XP_005266484.1:n.1947-389_1947-388delinsTC
XM_005266428.1:c.1870-2167_1870-2166delinsTC	XP_005266485.1:n.1870-2167_1870-2166delinsTC
XM_005266430.3:c.1947-389_1947-388delinsTC	XP_005266487.1:n.1947-389_1947-388delinsTC
XM_005266431.2:c.1911-389_1911-388delinsTC	XP_005266488.1:n.1911-389_1911-388delinsTC
XM_005266432.2:c.1870-3104_1870-3103delinsTC	XP_005266489.1:n.1870-3104_1870-3103delinsTC
XM_006719837.2:c.1851-389_1851-388delinsTC	XP_006719900.1:n.1851-389_1851-388delinsTC
XM_006719838.1:c.-64+1126_-64+1127delinsTC	XP_006719901.1:n.-64+1126_-64+1127delinsTC
XM_006719839.1:c.-64+1126_-64+1127delinsTC	XP_006719902.1:n.-64+1126_-64+1127delinsTC
XM_011535117.1:c.1851-389_1851-388delinsTC	XP_011533419.1:n.1851-389_1851-388delinsTC
XM_011535118.1:c.1947-389_1947-388delinsTC	XP_011533420.1:n.1947-389_1947-388delinsTC
XM_011535119.1:c.1947-389_1947-388delinsTC	XP_011533421.1:n.1947-389_1947-388delinsTC
XM_011535120.1:c.1708-2167_1708-2166delinsTC	XP_011533422.1:n.1708-2167_1708-2166delinsTC
XM_011535121.1:c.1947-389_1947-388delinsTC	XP_011533423.1:n.1947-389_1947-388delinsTC
XM_011535122.1:c.615-389_615-388delinsTC	XP_011533424.1:n.615-389_615-388delinsTC
XR_941601.1:n.2166-389_2166-388delinsTC
XR_941602.1:n.2166-389_2166-388delinsTC
XR_941603.1:n.2166-389_2166-388delinsTC
XR_941604.1:n.2166-389_2166-388delinsTC
NM_001330578.1:c.1947-389_1947-388delinsTC	NP_001317507.1:n.1947-389_1947-388delinsTC
NM_001330579.1:c.1870-2167_1870-2166delinsTC	NP_001317508.1:n.1870-2167_1870-2166delinsTC
XM_005266424.4:c.1851-389_1851-388delinsTC	XP_005266481.1:n.1851-389_1851-388delinsTC
XM_005266430.4:c.1947-389_1947-388delinsTC	XP_005266487.1:n.1947-389_1947-388delinsTC
XM_005266431.4:c.1911-389_1911-388delinsTC	XP_005266488.1:n.1911-389_1911-388delinsTC
XM_006719837.3:c.1851-389_1851-388delinsTC	XP_006719900.1:n.1851-389_1851-388delinsTC
XM_011535117.3:c.1851-389_1851-388delinsTC	XP_011533419.1:n.1851-389_1851-388delinsTC
XM_017020627.1:c.1851-389_1851-388delinsTC	XP_016876116.1:n.1851-389_1851-388delinsTC
NM_000053.4:c.1947-389_1947-388delinsTC MANE Select	NP_000044.2:n.1947-389_1947-388delinsTC
NM_001005918.3:c.1870-3104_1870-3103delinsTC	NP_001005918.1:n.1870-3104_1870-3103delinsTC
NM_001330579.2:c.1870-2167_1870-2166delinsTC	NP_001317508.1:n.1870-2167_1870-2166delinsTC
NM_001243182.2:c.1614-389_1614-388delinsTC	NP_001230111.1:n.1614-389_1614-388delinsTC
NM_001330578.2:c.1947-389_1947-388delinsTC	NP_001317507.1:n.1947-389_1947-388delinsTC