Canonical Allele Identifier: CA2091542618

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950447_51950448delinsCG , CM000675.2:g.51950447_51950448delinsCG	GRCh38
NC_000013.10:g.52524583_52524584delinsCG , CM000675.1:g.52524583_52524584delinsCG	GRCh37
NC_000013.9:g.51422584_51422585delinsCG	NCBI36
NG_008806.1:g.66047_66048delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*281-49_*281-48delinsCG	ENSP00000489512.2:n.*281-49_*281-48delinsCG
ENST00000673864.2:c.*1192-49_*1192-48delinsCG	ENSP00000501045.2:n.*1192-49_*1192-48delinsCG
ENST00000674147.2:c.1962-49_1962-48delinsCG	ENSP00000500964.2:n.1962-49_1962-48delinsCG
ENST00000242839.10:c.2448-49_2448-48delinsCG MANE Select	ENSP00000242839.5:n.2448-49_2448-48delinsCG
ENST00000344297.9:c.1962-49_1962-48delinsCG	ENSP00000342559.5:n.1962-49_1962-48delinsCG
ENST00000400366.6:c.2115-49_2115-48delinsCG	ENSP00000383217.3:n.2115-49_2115-48delinsCG
ENST00000448424.7:c.2196-49_2196-48delinsCG	ENSP00000416738.3:n.2196-49_2196-48delinsCG
ENST00000673772.1:c.2214-49_2214-48delinsCG	ENSP00000501168.1:n.2214-49_2214-48delinsCG
ENST00000674147.1:c.1518-49_1518-48delinsCG	ENSP00000500964.1:n.1518-49_1518-48delinsCG
ENST00000242839.8:c.2448-49_2448-48delinsCG	ENSP00000242839.4:n.2448-49_2448-48delinsCG
ENST00000344297.8:c.1962-49_1962-48delinsCG	ENSP00000342559.5:n.1962-49_1962-48delinsCG
ENST00000400366.5:c.2115-49_2115-48delinsCG	ENSP00000383217.3:n.2115-49_2115-48delinsCG
ENST00000400370.8:c.1286-287_1286-286delinsCG	ENSP00000383221.3:n.1286-287_1286-286delinsCG
ENST00000418097.7:c.2448-49_2448-48delinsCG	ENSP00000393343.2:n.2448-49_2448-48delinsCG
ENST00000448424.6:c.2214-49_2214-48delinsCG	ENSP00000416738.2:n.2214-49_2214-48delinsCG
ENST00000634296.1:c.409-49_409-48delinsCG
ENST00000634308.1:c.2214-49_2214-48delinsCG	ENSP00000489234.1:n.2214-49_2214-48delinsCG
ENST00000634620.1:n.3246-49_3246-48delinsCG
ENST00000634810.1:n.1793-49_1793-48delinsCG
ENST00000634844.1:c.2304-49_2304-48delinsCG	ENSP00000489398.1:n.2304-49_2304-48delinsCG
ENST00000635406.1:n.212-3970_212-3969delinsCG
NM_000053.3:c.2448-49_2448-48delinsCG	NP_000044.2:n.2448-49_2448-48delinsCG
NM_001005918.2:c.1962-49_1962-48delinsCG	NP_001005918.1:n.1962-49_1962-48delinsCG
NM_001243182.1:c.2115-49_2115-48delinsCG	NP_001230111.1:n.2115-49_2115-48delinsCG
XM_005266423.2:c.2352-49_2352-48delinsCG	XP_005266480.1:n.2352-49_2352-48delinsCG
XM_005266424.3:c.2352-49_2352-48delinsCG	XP_005266481.1:n.2352-49_2352-48delinsCG
XM_005266427.2:c.2214-49_2214-48delinsCG	XP_005266484.1:n.2214-49_2214-48delinsCG
XM_005266428.1:c.2196-49_2196-48delinsCG	XP_005266485.1:n.2196-49_2196-48delinsCG
XM_005266430.3:c.2448-49_2448-48delinsCG	XP_005266487.1:n.2448-49_2448-48delinsCG
XM_005266431.2:c.2412-49_2412-48delinsCG	XP_005266488.1:n.2412-49_2412-48delinsCG
XM_005266432.2:c.1962-49_1962-48delinsCG	XP_005266489.1:n.1962-49_1962-48delinsCG
XM_006719837.2:c.2352-49_2352-48delinsCG	XP_006719900.1:n.2352-49_2352-48delinsCG
XM_006719838.1:c.264-49_264-48delinsCG	XP_006719901.1:n.264-49_264-48delinsCG
XM_006719839.1:c.264-49_264-48delinsCG	XP_006719902.1:n.264-49_264-48delinsCG
XM_011535117.1:c.2352-49_2352-48delinsCG	XP_011533419.1:n.2352-49_2352-48delinsCG
XM_011535118.1:c.2448-49_2448-48delinsCG	XP_011533420.1:n.2448-49_2448-48delinsCG
XM_011535119.1:c.2448-49_2448-48delinsCG	XP_011533421.1:n.2448-49_2448-48delinsCG
XM_011535120.1:c.2034-49_2034-48delinsCG	XP_011533422.1:n.2034-49_2034-48delinsCG
XM_011535121.1:c.2448-49_2448-48delinsCG	XP_011533423.1:n.2448-49_2448-48delinsCG
XM_011535122.1:c.1116-49_1116-48delinsCG	XP_011533424.1:n.1116-49_1116-48delinsCG
XR_941601.1:n.2667-49_2667-48delinsCG
XR_941602.1:n.2667-49_2667-48delinsCG
XR_941603.1:n.2667-49_2667-48delinsCG
XR_941604.1:n.2667-49_2667-48delinsCG
NM_001330578.1:c.2214-49_2214-48delinsCG	NP_001317507.1:n.2214-49_2214-48delinsCG
NM_001330579.1:c.2196-49_2196-48delinsCG	NP_001317508.1:n.2196-49_2196-48delinsCG
XM_005266424.4:c.2352-49_2352-48delinsCG	XP_005266481.1:n.2352-49_2352-48delinsCG
XM_005266430.4:c.2448-49_2448-48delinsCG	XP_005266487.1:n.2448-49_2448-48delinsCG
XM_005266431.4:c.2412-49_2412-48delinsCG	XP_005266488.1:n.2412-49_2412-48delinsCG
XM_006719837.3:c.2352-49_2352-48delinsCG	XP_006719900.1:n.2352-49_2352-48delinsCG
XM_011535117.3:c.2352-49_2352-48delinsCG	XP_011533419.1:n.2352-49_2352-48delinsCG
XM_017020627.1:c.2352-49_2352-48delinsCG	XP_016876116.1:n.2352-49_2352-48delinsCG
NM_000053.4:c.2448-49_2448-48delinsCG MANE Select	NP_000044.2:n.2448-49_2448-48delinsCG
NM_001005918.3:c.1962-49_1962-48delinsCG	NP_001005918.1:n.1962-49_1962-48delinsCG
NM_001330579.2:c.2196-49_2196-48delinsCG	NP_001317508.1:n.2196-49_2196-48delinsCG
NM_001243182.2:c.2115-49_2115-48delinsCG	NP_001230111.1:n.2115-49_2115-48delinsCG
NM_001330578.2:c.2214-49_2214-48delinsCG	NP_001317507.1:n.2214-49_2214-48delinsCG