Canonical Allele Identifier: CA2623116217

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51960466-GAACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960467_51960470del , CM000675.2:g.51960467_51960470del	GRCh38
NC_000013.10:g.52534603_52534606del , CM000675.1:g.52534603_52534606del	GRCh37
NC_000013.9:g.51432604_51432607del	NCBI36
NG_008806.1:g.56025_56028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1946+1367_1946+1370del	ENSP00000489512.2:n.1946+1367_1946+1370del
ENST00000673864.2:c.*691-148_*691-145del	ENSP00000501045.2:n.*691-148_*691-145del
ENST00000674147.2:c.1870-2863_1870-2860del	ENSP00000500964.2:n.1870-2863_1870-2860del
ENST00000242839.10:c.1947-148_1947-145del MANE Select	ENSP00000242839.5:n.1947-148_1947-145del
ENST00000344297.9:c.1870-2863_1870-2860del	ENSP00000342559.5:n.1870-2863_1870-2860del
ENST00000400366.6:c.1614-148_1614-145del	ENSP00000383217.3:n.1614-148_1614-145del
ENST00000448424.7:c.1870-1926_1870-1923del	ENSP00000416738.3:n.1870-1926_1870-1923del
ENST00000673772.1:c.1947-148_1947-145del	ENSP00000501168.1:n.1947-148_1947-145del
ENST00000674147.1:c.1426-2863_1426-2860del	ENSP00000500964.1:n.1426-2863_1426-2860del
ENST00000242839.8:c.1947-148_1947-145del	ENSP00000242839.4:n.1947-148_1947-145del
ENST00000344297.8:c.1870-2863_1870-2860del	ENSP00000342559.5:n.1870-2863_1870-2860del
ENST00000400366.5:c.1614-148_1614-145del	ENSP00000383217.3:n.1614-148_1614-145del
ENST00000400370.8:c.1286-10309_1286-10306del	ENSP00000383221.3:n.1286-10309_1286-10306del
ENST00000418097.7:c.1947-148_1947-145del	ENSP00000393343.2:n.1947-148_1947-145del
ENST00000448424.6:c.1947-148_1947-145del	ENSP00000416738.2:n.1947-148_1947-145del
ENST00000482841.6:n.1665-1926_1665-1923del
ENST00000634296.1:c.82+1367_82+1370del
ENST00000634308.1:c.1947-148_1947-145del	ENSP00000489234.1:n.1947-148_1947-145del
ENST00000634620.1:n.439-148_439-145del
ENST00000634844.1:c.1947-148_1947-145del	ENSP00000489398.1:n.1947-148_1947-145del
ENST00000635406.1:n.212-13992_212-13989del
NM_000053.3:c.1947-148_1947-145del	NP_000044.2:n.1947-148_1947-145del
NM_001005918.2:c.1870-2863_1870-2860del	NP_001005918.1:n.1870-2863_1870-2860del
NM_001243182.1:c.1614-148_1614-145del	NP_001230111.1:n.1614-148_1614-145del
XM_005266423.2:c.1851-148_1851-145del	XP_005266480.1:n.1851-148_1851-145del
XM_005266424.3:c.1851-148_1851-145del	XP_005266481.1:n.1851-148_1851-145del
XM_005266427.2:c.1947-148_1947-145del	XP_005266484.1:n.1947-148_1947-145del
XM_005266428.1:c.1870-1926_1870-1923del	XP_005266485.1:n.1870-1926_1870-1923del
XM_005266430.3:c.1947-148_1947-145del	XP_005266487.1:n.1947-148_1947-145del
XM_005266431.2:c.1911-148_1911-145del	XP_005266488.1:n.1911-148_1911-145del
XM_005266432.2:c.1870-2863_1870-2860del	XP_005266489.1:n.1870-2863_1870-2860del
XM_006719837.2:c.1851-148_1851-145del	XP_006719900.1:n.1851-148_1851-145del
XM_006719838.1:c.-64+1367_-64+1370del	XP_006719901.1:n.-64+1367_-64+1370del
XM_006719839.1:c.-64+1367_-64+1370del	XP_006719902.1:n.-64+1367_-64+1370del
XM_011535117.1:c.1851-148_1851-145del	XP_011533419.1:n.1851-148_1851-145del
XM_011535118.1:c.1947-148_1947-145del	XP_011533420.1:n.1947-148_1947-145del
XM_011535119.1:c.1947-148_1947-145del	XP_011533421.1:n.1947-148_1947-145del
XM_011535120.1:c.1708-1926_1708-1923del	XP_011533422.1:n.1708-1926_1708-1923del
XM_011535121.1:c.1947-148_1947-145del	XP_011533423.1:n.1947-148_1947-145del
XM_011535122.1:c.615-148_615-145del	XP_011533424.1:n.615-148_615-145del
XR_941601.1:n.2166-148_2166-145del
XR_941602.1:n.2166-148_2166-145del
XR_941603.1:n.2166-148_2166-145del
XR_941604.1:n.2166-148_2166-145del
NM_001330578.1:c.1947-148_1947-145del	NP_001317507.1:n.1947-148_1947-145del
NM_001330579.1:c.1870-1926_1870-1923del	NP_001317508.1:n.1870-1926_1870-1923del
XM_005266424.4:c.1851-148_1851-145del	XP_005266481.1:n.1851-148_1851-145del
XM_005266430.4:c.1947-148_1947-145del	XP_005266487.1:n.1947-148_1947-145del
XM_005266431.4:c.1911-148_1911-145del	XP_005266488.1:n.1911-148_1911-145del
XM_006719837.3:c.1851-148_1851-145del	XP_006719900.1:n.1851-148_1851-145del
XM_011535117.3:c.1851-148_1851-145del	XP_011533419.1:n.1851-148_1851-145del
XM_017020627.1:c.1851-148_1851-145del	XP_016876116.1:n.1851-148_1851-145del
NM_000053.4:c.1947-148_1947-145del MANE Select	NP_000044.2:n.1947-148_1947-145del
NM_001005918.3:c.1870-2863_1870-2860del	NP_001005918.1:n.1870-2863_1870-2860del
NM_001330579.2:c.1870-1926_1870-1923del	NP_001317508.1:n.1870-1926_1870-1923del
NM_001243182.2:c.1614-148_1614-145del	NP_001230111.1:n.1614-148_1614-145del
NM_001330578.2:c.1947-148_1947-145del	NP_001317507.1:n.1947-148_1947-145del