Canonical Allele Identifier: CA6989125

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 552485
• ClinVar RCV Id: RCV000667756
• dbSNP Id: rs770107276
• ExAC: 13:52534342 ATGT / A
• gnomAD v2: 13-52534342-ATGT-A
• gnomAD v4: 13-51960206-ATGT-A
• MyVariant Identifiers: chr13:g.52534343_52534345del (hg19) ; chr13:g.51960208_51960210del (hg38) ; chr13:g.51960207_51960209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960210_51960212del , CM000675.2:g.51960210_51960212del	GRCh38
NC_000013.10:g.52534346_52534348del , CM000675.1:g.52534346_52534348del	GRCh37
NC_000013.9:g.51432347_51432349del	NCBI36
NG_008806.1:g.56286_56288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1946+1628_1946+1630del	ENSP00000489512.2:n.1946+1628_1946+1630del
ENST00000673864.2:c.*804_*806del	ENSP00000501045.2:n.*804_*806del
ENST00000674147.2:c.1870-2602_1870-2600del	ENSP00000500964.2:n.1870-2602_1870-2600del
ENST00000242839.10:c.2060_2062del MANE Select	ENSP00000242839.5:p.Asn687del
ENST00000344297.9:c.1870-2602_1870-2600del	ENSP00000342559.5:n.1870-2602_1870-2600del
ENST00000400366.6:c.1727_1729del	ENSP00000383217.3:p.Asn576del
ENST00000448424.7:c.1870-1665_1870-1663del	ENSP00000416738.3:n.1870-1665_1870-1663del
ENST00000673772.1:c.2060_2062del	ENSP00000501168.1:p.Asn687del
ENST00000674147.1:c.1426-2602_1426-2600del	ENSP00000500964.1:n.1426-2602_1426-2600del
ENST00000242839.8:c.2060_2062del	ENSP00000242839.4:p.Asn687del
ENST00000344297.8:c.1870-2602_1870-2600del	ENSP00000342559.5:n.1870-2602_1870-2600del
ENST00000400366.5:c.1727_1729del	ENSP00000383217.3:p.Asn576del
ENST00000400370.8:c.1286-10048_1286-10046del	ENSP00000383221.3:n.1286-10048_1286-10046del
ENST00000418097.7:c.2060_2062del	ENSP00000393343.2:p.Asn687del
ENST00000448424.6:c.2060_2062del	ENSP00000416738.2:p.Asn687del
ENST00000482841.6:n.1665-1665_1665-1663del
ENST00000634296.1:c.82+1628_82+1630del
ENST00000634308.1:c.2060_2062del	ENSP00000489234.1:p.Asn687del
ENST00000634620.1:n.552_554del
ENST00000634844.1:c.2060_2062del	ENSP00000489398.1:p.Asn687del
ENST00000635406.1:n.212-13731_212-13729del
NM_000053.3:c.2060_2062del	NP_000044.2:p.Asn687del
NM_001005918.2:c.1870-2602_1870-2600del	NP_001005918.1:n.1870-2602_1870-2600del
NM_001243182.1:c.1727_1729del	NP_001230111.1:p.Asn576del
XM_005266423.2:c.1964_1966del	XP_005266480.1:p.Asn655del
XM_005266424.3:c.1964_1966del	XP_005266481.1:p.Asn655del
XM_005266427.2:c.2060_2062del	XP_005266484.1:p.Asn687del
XM_005266428.1:c.1870-1665_1870-1663del	XP_005266485.1:n.1870-1665_1870-1663del
XM_005266430.3:c.2060_2062del	XP_005266487.1:p.Asn687del
XM_005266431.2:c.2024_2026del	XP_005266488.1:p.Asn675del
XM_005266432.2:c.1870-2602_1870-2600del	XP_005266489.1:n.1870-2602_1870-2600del
XM_006719837.2:c.1964_1966del	XP_006719900.1:p.Asn655del
XM_006719838.1:c.-64+1628_-64+1630del	XP_006719901.1:n.-64+1628_-64+1630del
XM_006719839.1:c.-64+1628_-64+1630del	XP_006719902.1:n.-64+1628_-64+1630del
XM_011535117.1:c.1964_1966del	XP_011533419.1:p.Asn655del
XM_011535118.1:c.2060_2062del	XP_011533420.1:p.Asn687del
XM_011535119.1:c.2060_2062del	XP_011533421.1:p.Asn687del
XM_011535120.1:c.1708-1665_1708-1663del	XP_011533422.1:n.1708-1665_1708-1663del
XM_011535121.1:c.2060_2062del	XP_011533423.1:p.Asn687del
XM_011535122.1:c.728_730del	XP_011533424.1:p.Asn243del
XR_941601.1:n.2279_2281del
XR_941602.1:n.2279_2281del
XR_941603.1:n.2279_2281del
XR_941604.1:n.2279_2281del
NM_001330578.1:c.2060_2062del	NP_001317507.1:p.Asn687del
NM_001330579.1:c.1870-1665_1870-1663del	NP_001317508.1:n.1870-1665_1870-1663del
XM_005266424.4:c.1964_1966del	XP_005266481.1:p.Asn655del
XM_005266430.4:c.2060_2062del	XP_005266487.1:p.Asn687del
XM_005266431.4:c.2024_2026del	XP_005266488.1:p.Asn675del
XM_006719837.3:c.1964_1966del	XP_006719900.1:p.Asn655del
XM_011535117.3:c.1964_1966del	XP_011533419.1:p.Asn655del
XM_017020627.1:c.1964_1966del	XP_016876116.1:p.Asn655del
NM_000053.4:c.2060_2062del MANE Select	NP_000044.2:p.Asn687del
NM_001005918.3:c.1870-2602_1870-2600del	NP_001005918.1:n.1870-2602_1870-2600del
NM_001330579.2:c.1870-1665_1870-1663del	NP_001317508.1:n.1870-1665_1870-1663del
NM_001243182.2:c.1727_1729del	NP_001230111.1:p.Asn576del
NM_001330578.2:c.2060_2062del	NP_001317507.1:p.Asn687del