Canonical Allele Identifier: CA2091551873

Gene: ATP7B

Linked Data

• dbSNP Id: rs1958659742
• gnomAD v4: 13-51960459-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960463_51960466del , CM000675.2:g.51960463_51960466del	GRCh38
NC_000013.10:g.52534599_52534602del , CM000675.1:g.52534599_52534602del	GRCh37
NC_000013.9:g.51432600_51432603del	NCBI36
NG_008806.1:g.56032_56035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1946+1374_1946+1377del	ENSP00000489512.2:n.1946+1374_1946+1377del
ENST00000673864.2:c.*691-141_*691-138del	ENSP00000501045.2:n.*691-141_*691-138del
ENST00000674147.2:c.1870-2856_1870-2853del	ENSP00000500964.2:n.1870-2856_1870-2853del
ENST00000242839.10:c.1947-141_1947-138del MANE Select	ENSP00000242839.5:n.1947-141_1947-138del
ENST00000344297.9:c.1870-2856_1870-2853del	ENSP00000342559.5:n.1870-2856_1870-2853del
ENST00000400366.6:c.1614-141_1614-138del	ENSP00000383217.3:n.1614-141_1614-138del
ENST00000448424.7:c.1870-1919_1870-1916del	ENSP00000416738.3:n.1870-1919_1870-1916del
ENST00000673772.1:c.1947-141_1947-138del	ENSP00000501168.1:n.1947-141_1947-138del
ENST00000674147.1:c.1426-2856_1426-2853del	ENSP00000500964.1:n.1426-2856_1426-2853del
ENST00000242839.8:c.1947-141_1947-138del	ENSP00000242839.4:n.1947-141_1947-138del
ENST00000344297.8:c.1870-2856_1870-2853del	ENSP00000342559.5:n.1870-2856_1870-2853del
ENST00000400366.5:c.1614-141_1614-138del	ENSP00000383217.3:n.1614-141_1614-138del
ENST00000400370.8:c.1286-10302_1286-10299del	ENSP00000383221.3:n.1286-10302_1286-10299del
ENST00000418097.7:c.1947-141_1947-138del	ENSP00000393343.2:n.1947-141_1947-138del
ENST00000448424.6:c.1947-141_1947-138del	ENSP00000416738.2:n.1947-141_1947-138del
ENST00000482841.6:n.1665-1919_1665-1916del
ENST00000634296.1:c.82+1374_82+1377del
ENST00000634308.1:c.1947-141_1947-138del	ENSP00000489234.1:n.1947-141_1947-138del
ENST00000634620.1:n.439-141_439-138del
ENST00000634844.1:c.1947-141_1947-138del	ENSP00000489398.1:n.1947-141_1947-138del
ENST00000635406.1:n.212-13985_212-13982del
NM_000053.3:c.1947-141_1947-138del	NP_000044.2:n.1947-141_1947-138del
NM_001005918.2:c.1870-2856_1870-2853del	NP_001005918.1:n.1870-2856_1870-2853del
NM_001243182.1:c.1614-141_1614-138del	NP_001230111.1:n.1614-141_1614-138del
XM_005266423.2:c.1851-141_1851-138del	XP_005266480.1:n.1851-141_1851-138del
XM_005266424.3:c.1851-141_1851-138del	XP_005266481.1:n.1851-141_1851-138del
XM_005266427.2:c.1947-141_1947-138del	XP_005266484.1:n.1947-141_1947-138del
XM_005266428.1:c.1870-1919_1870-1916del	XP_005266485.1:n.1870-1919_1870-1916del
XM_005266430.3:c.1947-141_1947-138del	XP_005266487.1:n.1947-141_1947-138del
XM_005266431.2:c.1911-141_1911-138del	XP_005266488.1:n.1911-141_1911-138del
XM_005266432.2:c.1870-2856_1870-2853del	XP_005266489.1:n.1870-2856_1870-2853del
XM_006719837.2:c.1851-141_1851-138del	XP_006719900.1:n.1851-141_1851-138del
XM_006719838.1:c.-64+1374_-64+1377del	XP_006719901.1:n.-64+1374_-64+1377del
XM_006719839.1:c.-64+1374_-64+1377del	XP_006719902.1:n.-64+1374_-64+1377del
XM_011535117.1:c.1851-141_1851-138del	XP_011533419.1:n.1851-141_1851-138del
XM_011535118.1:c.1947-141_1947-138del	XP_011533420.1:n.1947-141_1947-138del
XM_011535119.1:c.1947-141_1947-138del	XP_011533421.1:n.1947-141_1947-138del
XM_011535120.1:c.1708-1919_1708-1916del	XP_011533422.1:n.1708-1919_1708-1916del
XM_011535121.1:c.1947-141_1947-138del	XP_011533423.1:n.1947-141_1947-138del
XM_011535122.1:c.615-141_615-138del	XP_011533424.1:n.615-141_615-138del
XR_941601.1:n.2166-141_2166-138del
XR_941602.1:n.2166-141_2166-138del
XR_941603.1:n.2166-141_2166-138del
XR_941604.1:n.2166-141_2166-138del
NM_001330578.1:c.1947-141_1947-138del	NP_001317507.1:n.1947-141_1947-138del
NM_001330579.1:c.1870-1919_1870-1916del	NP_001317508.1:n.1870-1919_1870-1916del
XM_005266424.4:c.1851-141_1851-138del	XP_005266481.1:n.1851-141_1851-138del
XM_005266430.4:c.1947-141_1947-138del	XP_005266487.1:n.1947-141_1947-138del
XM_005266431.4:c.1911-141_1911-138del	XP_005266488.1:n.1911-141_1911-138del
XM_006719837.3:c.1851-141_1851-138del	XP_006719900.1:n.1851-141_1851-138del
XM_011535117.3:c.1851-141_1851-138del	XP_011533419.1:n.1851-141_1851-138del
XM_017020627.1:c.1851-141_1851-138del	XP_016876116.1:n.1851-141_1851-138del
NM_000053.4:c.1947-141_1947-138del MANE Select	NP_000044.2:n.1947-141_1947-138del
NM_001005918.3:c.1870-2856_1870-2853del	NP_001005918.1:n.1870-2856_1870-2853del
NM_001330579.2:c.1870-1919_1870-1916del	NP_001317508.1:n.1870-1919_1870-1916del
NM_001243182.2:c.1614-141_1614-138del	NP_001230111.1:n.1614-141_1614-138del
NM_001330578.2:c.1947-141_1947-138del	NP_001317507.1:n.1947-141_1947-138del