Canonical Allele Identifier: CA2091550110

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958453_51958454delinsCT , CM000675.2:g.51958453_51958454delinsCT	GRCh38
NC_000013.10:g.52532589_52532590delinsCT , CM000675.1:g.52532589_52532590delinsCT	GRCh37
NC_000013.9:g.51430590_51430591delinsCT	NCBI36
NG_008806.1:g.58041_58042delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*45_*46delinsAG	ENSP00000489512.2:n.*45_*46delinsAG
ENST00000673864.2:c.*956_*957delinsAG	ENSP00000501045.2:n.*956_*957delinsAG
ENST00000674147.2:c.1870-847_1870-846delinsAG	ENSP00000500964.2:n.1870-847_1870-846delinsAG
ENST00000242839.10:c.2212_2213delinsAG MANE Select	ENSP00000242839.5:p.Ser738=
ENST00000344297.9:c.1870-847_1870-846delinsAG	ENSP00000342559.5:n.1870-847_1870-846delinsAG
ENST00000400366.6:c.1879_1880delinsAG	ENSP00000383217.3:p.Ser627=
ENST00000448424.7:c.1960_1961delinsAG	ENSP00000416738.3:p.Ser654=
ENST00000673772.1:c.2122-847_2122-846delinsAG	ENSP00000501168.1:n.2122-847_2122-846delinsAG
ENST00000674147.1:c.1426-847_1426-846delinsAG	ENSP00000500964.1:n.1426-847_1426-846delinsAG
ENST00000242839.8:c.2212_2213delinsAG	ENSP00000242839.4:p.Ser738=
ENST00000344297.8:c.1870-847_1870-846delinsAG	ENSP00000342559.5:n.1870-847_1870-846delinsAG
ENST00000400366.5:c.1879_1880delinsAG	ENSP00000383217.3:p.Ser627=
ENST00000400370.8:c.1286-8293_1286-8292delinsAG	ENSP00000383221.3:n.1286-8293_1286-8292delinsAG
ENST00000418097.7:c.2212_2213delinsAG	ENSP00000393343.2:p.Ser738=
ENST00000448424.6:c.2122-847_2122-846delinsAG	ENSP00000416738.2:n.2122-847_2122-846delinsAG
ENST00000482841.6:n.1755_1756delinsAG
ENST00000634296.1:c.173_174delinsAG
ENST00000634308.1:c.2122-847_2122-846delinsAG	ENSP00000489234.1:n.2122-847_2122-846delinsAG
ENST00000634620.1:n.2307_2308delinsAG
ENST00000634810.1:n.1557_1558delinsAG
ENST00000634844.1:c.2122-54_2122-53delinsAG	ENSP00000489398.1:n.2122-54_2122-53delinsAG
ENST00000635406.1:n.212-11976_212-11975delinsAG
NM_000053.3:c.2212_2213delinsAG	NP_000044.2:p.Ser738=
NM_001005918.2:c.1870-847_1870-846delinsAG	NP_001005918.1:n.1870-847_1870-846delinsAG
NM_001243182.1:c.1879_1880delinsAG	NP_001230111.1:p.Ser627=
XM_005266423.2:c.2116_2117delinsAG	XP_005266480.1:p.Ser706=
XM_005266424.3:c.2116_2117delinsAG	XP_005266481.1:p.Ser706=
XM_005266427.2:c.2122-847_2122-846delinsAG	XP_005266484.1:n.2122-847_2122-846delinsAG
XM_005266428.1:c.1960_1961delinsAG	XP_005266485.1:p.Ser654=
XM_005266430.3:c.2212_2213delinsAG	XP_005266487.1:p.Ser738=
XM_005266431.2:c.2176_2177delinsAG	XP_005266488.1:p.Ser726=
XM_005266432.2:c.1870-847_1870-846delinsAG	XP_005266489.1:n.1870-847_1870-846delinsAG
XM_006719837.2:c.2116_2117delinsAG	XP_006719900.1:p.Ser706=
XM_006719838.1:c.28_29delinsAG	XP_006719901.1:p.Ser10=
XM_006719839.1:c.28_29delinsAG	XP_006719902.1:p.Ser10=
XM_011535117.1:c.2116_2117delinsAG	XP_011533419.1:p.Ser706=
XM_011535118.1:c.2212_2213delinsAG	XP_011533420.1:p.Ser738=
XM_011535119.1:c.2212_2213delinsAG	XP_011533421.1:p.Ser738=
XM_011535120.1:c.1798_1799delinsAG	XP_011533422.1:p.Ser600=
XM_011535121.1:c.2212_2213delinsAG	XP_011533423.1:p.Ser738=
XM_011535122.1:c.880_881delinsAG	XP_011533424.1:p.Ser294=
XR_941601.1:n.2431_2432delinsAG
XR_941602.1:n.2431_2432delinsAG
XR_941603.1:n.2431_2432delinsAG
XR_941604.1:n.2431_2432delinsAG
NM_001330578.1:c.2122-847_2122-846delinsAG	NP_001317507.1:n.2122-847_2122-846delinsAG
NM_001330579.1:c.1960_1961delinsAG	NP_001317508.1:p.Ser654=
XM_005266424.4:c.2116_2117delinsAG	XP_005266481.1:p.Ser706=
XM_005266430.4:c.2212_2213delinsAG	XP_005266487.1:p.Ser738=
XM_005266431.4:c.2176_2177delinsAG	XP_005266488.1:p.Ser726=
XM_006719837.3:c.2116_2117delinsAG	XP_006719900.1:p.Ser706=
XM_011535117.3:c.2116_2117delinsAG	XP_011533419.1:p.Ser706=
XM_017020627.1:c.2116_2117delinsAG	XP_016876116.1:p.Ser706=
NM_000053.4:c.2212_2213delinsAG MANE Select	NP_000044.2:p.Ser738=
NM_001005918.3:c.1870-847_1870-846delinsAG	NP_001005918.1:n.1870-847_1870-846delinsAG
NM_001330579.2:c.1960_1961delinsAG	NP_001317508.1:p.Ser654=
NM_001243182.2:c.1879_1880delinsAG	NP_001230111.1:p.Ser627=
NM_001330578.2:c.2122-847_2122-846delinsAG	NP_001317507.1:n.2122-847_2122-846delinsAG