Canonical Allele Identifier: CA609967562

Gene: ATP7B

Linked Data

• dbSNP Id: rs1282322729
• gnomAD v2: 13-52524667-TAC-T
• gnomAD v3: 13-51950531-TAC-T
• gnomAD v4: 13-51950531-TAC-T
• MyVariant Identifiers: chr13:g.52524668_52524669del (hg19) ; chr13:g.51950532_51950533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950533_51950534del , CM000675.2:g.51950533_51950534del	GRCh38
NC_000013.10:g.52524669_52524670del , CM000675.1:g.52524669_52524670del	GRCh37
NC_000013.9:g.51422670_51422671del	NCBI36
NG_008806.1:g.65962_65963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*281-134_*281-133del	ENSP00000489512.2:n.*281-134_*281-133del
ENST00000673864.2:c.*1192-134_*1192-133del	ENSP00000501045.2:n.*1192-134_*1192-133del
ENST00000674147.2:c.1962-134_1962-133del	ENSP00000500964.2:n.1962-134_1962-133del
ENST00000242839.10:c.2448-134_2448-133del MANE Select	ENSP00000242839.5:n.2448-134_2448-133del
ENST00000344297.9:c.1962-134_1962-133del	ENSP00000342559.5:n.1962-134_1962-133del
ENST00000400366.6:c.2115-134_2115-133del	ENSP00000383217.3:n.2115-134_2115-133del
ENST00000448424.7:c.2196-134_2196-133del	ENSP00000416738.3:n.2196-134_2196-133del
ENST00000673772.1:c.2214-134_2214-133del	ENSP00000501168.1:n.2214-134_2214-133del
ENST00000674147.1:c.1518-134_1518-133del	ENSP00000500964.1:n.1518-134_1518-133del
ENST00000242839.8:c.2448-134_2448-133del	ENSP00000242839.4:n.2448-134_2448-133del
ENST00000344297.8:c.1962-134_1962-133del	ENSP00000342559.5:n.1962-134_1962-133del
ENST00000400366.5:c.2115-134_2115-133del	ENSP00000383217.3:n.2115-134_2115-133del
ENST00000400370.8:c.1286-372_1286-371del	ENSP00000383221.3:n.1286-372_1286-371del
ENST00000418097.7:c.2448-134_2448-133del	ENSP00000393343.2:n.2448-134_2448-133del
ENST00000448424.6:c.2214-134_2214-133del	ENSP00000416738.2:n.2214-134_2214-133del
ENST00000634296.1:c.409-134_409-133del
ENST00000634308.1:c.2214-134_2214-133del	ENSP00000489234.1:n.2214-134_2214-133del
ENST00000634620.1:n.3246-134_3246-133del
ENST00000634810.1:n.1793-134_1793-133del
ENST00000634844.1:c.2304-134_2304-133del	ENSP00000489398.1:n.2304-134_2304-133del
ENST00000635406.1:n.212-4055_212-4054del
NM_000053.3:c.2448-134_2448-133del	NP_000044.2:n.2448-134_2448-133del
NM_001005918.2:c.1962-134_1962-133del	NP_001005918.1:n.1962-134_1962-133del
NM_001243182.1:c.2115-134_2115-133del	NP_001230111.1:n.2115-134_2115-133del
XM_005266423.2:c.2352-134_2352-133del	XP_005266480.1:n.2352-134_2352-133del
XM_005266424.3:c.2352-134_2352-133del	XP_005266481.1:n.2352-134_2352-133del
XM_005266427.2:c.2214-134_2214-133del	XP_005266484.1:n.2214-134_2214-133del
XM_005266428.1:c.2196-134_2196-133del	XP_005266485.1:n.2196-134_2196-133del
XM_005266430.3:c.2448-134_2448-133del	XP_005266487.1:n.2448-134_2448-133del
XM_005266431.2:c.2412-134_2412-133del	XP_005266488.1:n.2412-134_2412-133del
XM_005266432.2:c.1962-134_1962-133del	XP_005266489.1:n.1962-134_1962-133del
XM_006719837.2:c.2352-134_2352-133del	XP_006719900.1:n.2352-134_2352-133del
XM_006719838.1:c.264-134_264-133del	XP_006719901.1:n.264-134_264-133del
XM_006719839.1:c.264-134_264-133del	XP_006719902.1:n.264-134_264-133del
XM_011535117.1:c.2352-134_2352-133del	XP_011533419.1:n.2352-134_2352-133del
XM_011535118.1:c.2448-134_2448-133del	XP_011533420.1:n.2448-134_2448-133del
XM_011535119.1:c.2448-134_2448-133del	XP_011533421.1:n.2448-134_2448-133del
XM_011535120.1:c.2034-134_2034-133del	XP_011533422.1:n.2034-134_2034-133del
XM_011535121.1:c.2448-134_2448-133del	XP_011533423.1:n.2448-134_2448-133del
XM_011535122.1:c.1116-134_1116-133del	XP_011533424.1:n.1116-134_1116-133del
XR_941601.1:n.2667-134_2667-133del
XR_941602.1:n.2667-134_2667-133del
XR_941603.1:n.2667-134_2667-133del
XR_941604.1:n.2667-134_2667-133del
NM_001330578.1:c.2214-134_2214-133del	NP_001317507.1:n.2214-134_2214-133del
NM_001330579.1:c.2196-134_2196-133del	NP_001317508.1:n.2196-134_2196-133del
XM_005266424.4:c.2352-134_2352-133del	XP_005266481.1:n.2352-134_2352-133del
XM_005266430.4:c.2448-134_2448-133del	XP_005266487.1:n.2448-134_2448-133del
XM_005266431.4:c.2412-134_2412-133del	XP_005266488.1:n.2412-134_2412-133del
XM_006719837.3:c.2352-134_2352-133del	XP_006719900.1:n.2352-134_2352-133del
XM_011535117.3:c.2352-134_2352-133del	XP_011533419.1:n.2352-134_2352-133del
XM_017020627.1:c.2352-134_2352-133del	XP_016876116.1:n.2352-134_2352-133del
NM_000053.4:c.2448-134_2448-133del MANE Select	NP_000044.2:n.2448-134_2448-133del
NM_001005918.3:c.1962-134_1962-133del	NP_001005918.1:n.1962-134_1962-133del
NM_001330579.2:c.2196-134_2196-133del	NP_001317508.1:n.2196-134_2196-133del
NM_001243182.2:c.2115-134_2115-133del	NP_001230111.1:n.2115-134_2115-133del
NM_001330578.2:c.2214-134_2214-133del	NP_001317507.1:n.2214-134_2214-133del