Canonical Allele Identifier: CA698896461

Gene: ATP7B

Linked Data

• dbSNP Id: rs1410400622
• gnomAD v3: 13-51960335-TGCAGCAACA-T
• gnomAD v4: 13-51960335-TGCAGCAACA-T
• MyVariant Identifiers: chr13:g.52534472_52534480del (hg19) ; chr13:g.51960336_51960344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960336_51960344del , CM000675.2:g.51960336_51960344del	GRCh38
NC_000013.10:g.52534472_52534480del , CM000675.1:g.52534472_52534480del	GRCh37
NC_000013.9:g.51432473_51432481del	NCBI36
NG_008806.1:g.56151_56159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1946+1493_1946+1501del	ENSP00000489512.2:n.1946+1493_1946+1501de...
ENST00000673864.2:c.*691-22_*691-14del	ENSP00000501045.2:n.*691-22_*691-14del
ENST00000674147.2:c.1870-2737_1870-2729del	ENSP00000500964.2:n.1870-2737_1870-2729de...
ENST00000242839.10:c.1947-22_1947-14del MANE Select	ENSP00000242839.5:n.1947-22_1947-14del
ENST00000344297.9:c.1870-2737_1870-2729del	ENSP00000342559.5:n.1870-2737_1870-2729de...
ENST00000400366.6:c.1614-22_1614-14del	ENSP00000383217.3:n.1614-22_1614-14del
ENST00000448424.7:c.1870-1800_1870-1792del	ENSP00000416738.3:n.1870-1800_1870-1792de...
ENST00000673772.1:c.1947-22_1947-14del	ENSP00000501168.1:n.1947-22_1947-14del
ENST00000674147.1:c.1426-2737_1426-2729del	ENSP00000500964.1:n.1426-2737_1426-2729de...
ENST00000242839.8:c.1947-22_1947-14del	ENSP00000242839.4:n.1947-22_1947-14del
ENST00000344297.8:c.1870-2737_1870-2729del	ENSP00000342559.5:n.1870-2737_1870-2729de...
ENST00000400366.5:c.1614-22_1614-14del	ENSP00000383217.3:n.1614-22_1614-14del
ENST00000400370.8:c.1286-10183_1286-10175del	ENSP00000383221.3:n.1286-10183_1286-10175...
ENST00000418097.7:c.1947-22_1947-14del	ENSP00000393343.2:n.1947-22_1947-14del
ENST00000448424.6:c.1947-22_1947-14del	ENSP00000416738.2:n.1947-22_1947-14del
ENST00000482841.6:n.1665-1800_1665-1792del
ENST00000634296.1:c.82+1493_82+1501del
ENST00000634308.1:c.1947-22_1947-14del	ENSP00000489234.1:n.1947-22_1947-14del
ENST00000634620.1:n.439-22_439-14del
ENST00000634844.1:c.1947-22_1947-14del	ENSP00000489398.1:n.1947-22_1947-14del
ENST00000635406.1:n.212-13866_212-13858del
NM_000053.3:c.1947-22_1947-14del	NP_000044.2:n.1947-22_1947-14del
NM_001005918.2:c.1870-2737_1870-2729del	NP_001005918.1:n.1870-2737_1870-2729del
NM_001243182.1:c.1614-22_1614-14del	NP_001230111.1:n.1614-22_1614-14del
XM_005266423.2:c.1851-22_1851-14del	XP_005266480.1:n.1851-22_1851-14del
XM_005266424.3:c.1851-22_1851-14del	XP_005266481.1:n.1851-22_1851-14del
XM_005266427.2:c.1947-22_1947-14del	XP_005266484.1:n.1947-22_1947-14del
XM_005266428.1:c.1870-1800_1870-1792del	XP_005266485.1:n.1870-1800_1870-1792del
XM_005266430.3:c.1947-22_1947-14del	XP_005266487.1:n.1947-22_1947-14del
XM_005266431.2:c.1911-22_1911-14del	XP_005266488.1:n.1911-22_1911-14del
XM_005266432.2:c.1870-2737_1870-2729del	XP_005266489.1:n.1870-2737_1870-2729del
XM_006719837.2:c.1851-22_1851-14del	XP_006719900.1:n.1851-22_1851-14del
XM_006719838.1:c.-64+1493_-64+1501del	XP_006719901.1:n.-64+1493_-64+1501del
XM_006719839.1:c.-64+1493_-64+1501del	XP_006719902.1:n.-64+1493_-64+1501del
XM_011535117.1:c.1851-22_1851-14del	XP_011533419.1:n.1851-22_1851-14del
XM_011535118.1:c.1947-22_1947-14del	XP_011533420.1:n.1947-22_1947-14del
XM_011535119.1:c.1947-22_1947-14del	XP_011533421.1:n.1947-22_1947-14del
XM_011535120.1:c.1708-1800_1708-1792del	XP_011533422.1:n.1708-1800_1708-1792del
XM_011535121.1:c.1947-22_1947-14del	XP_011533423.1:n.1947-22_1947-14del
XM_011535122.1:c.615-22_615-14del	XP_011533424.1:n.615-22_615-14del
XR_941601.1:n.2166-22_2166-14del
XR_941602.1:n.2166-22_2166-14del
XR_941603.1:n.2166-22_2166-14del
XR_941604.1:n.2166-22_2166-14del
NM_001330578.1:c.1947-22_1947-14del	NP_001317507.1:n.1947-22_1947-14del
NM_001330579.1:c.1870-1800_1870-1792del	NP_001317508.1:n.1870-1800_1870-1792del
XM_005266424.4:c.1851-22_1851-14del	XP_005266481.1:n.1851-22_1851-14del
XM_005266430.4:c.1947-22_1947-14del	XP_005266487.1:n.1947-22_1947-14del
XM_005266431.4:c.1911-22_1911-14del	XP_005266488.1:n.1911-22_1911-14del
XM_006719837.3:c.1851-22_1851-14del	XP_006719900.1:n.1851-22_1851-14del
XM_011535117.3:c.1851-22_1851-14del	XP_011533419.1:n.1851-22_1851-14del
XM_017020627.1:c.1851-22_1851-14del	XP_016876116.1:n.1851-22_1851-14del
NM_000053.4:c.1947-22_1947-14del MANE Select	NP_000044.2:n.1947-22_1947-14del
NM_001005918.3:c.1870-2737_1870-2729del	NP_001005918.1:n.1870-2737_1870-2729del
NM_001330579.2:c.1870-1800_1870-1792del	NP_001317508.1:n.1870-1800_1870-1792del
NM_001243182.2:c.1614-22_1614-14del	NP_001230111.1:n.1614-22_1614-14del
NM_001330578.2:c.1947-22_1947-14del	NP_001317507.1:n.1947-22_1947-14del