Canonical Allele Identifier: CA2623116450

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51961871-CGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51961873_51961875del , CM000675.2:g.51961873_51961875del	GRCh38
NC_000013.10:g.52536009_52536011del , CM000675.1:g.52536009_52536011del	GRCh37
NC_000013.9:g.51434010_51434012del	NCBI36
NG_008806.1:g.54621_54623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1909_1911del	ENSP00000489512.2:p.Asn637del
ENST00000673864.2:c.*653_*655del	ENSP00000501045.2:n.*653_*655del
ENST00000674147.2:c.1869+2998_1869+3000del	ENSP00000500964.2:n.1869+2998_1869+3000de...
ENST00000242839.10:c.1909_1911del MANE Select	ENSP00000242839.5:p.Asn637del
ENST00000344297.9:c.1869+2998_1869+3000del	ENSP00000342559.5:n.1869+2998_1869+3000de...
ENST00000400366.6:c.1576_1578del	ENSP00000383217.3:p.Asn526del
ENST00000448424.7:c.1869+2998_1869+3000del	ENSP00000416738.3:n.1869+2998_1869+3000de...
ENST00000673772.1:c.1909_1911del	ENSP00000501168.1:p.Asn637del
ENST00000674147.1:c.1425+2998_1425+3000del	ENSP00000500964.1:n.1425+2998_1425+3000de...
ENST00000242839.8:c.1909_1911del	ENSP00000242839.4:p.Asn637del
ENST00000344297.8:c.1869+2998_1869+3000del	ENSP00000342559.5:n.1869+2998_1869+3000de...
ENST00000400366.5:c.1576_1578del	ENSP00000383217.3:p.Asn526del
ENST00000400370.8:c.1286-11713_1286-11711del	ENSP00000383221.3:n.1286-11713_1286-11711...
ENST00000418097.7:c.1909_1911del	ENSP00000393343.2:p.Asn637del
ENST00000448424.6:c.1909_1911del	ENSP00000416738.2:p.Asn637del
ENST00000482841.6:n.1665-3330_1665-3328del
ENST00000634296.1:c.45_47del
ENST00000634308.1:c.1909_1911del	ENSP00000489234.1:p.Asn637del
ENST00000634620.1:n.401_403del
ENST00000634844.1:c.1909_1911del	ENSP00000489398.1:p.Asn637del
ENST00000635406.1:n.212-15396_212-15394del
NM_000053.3:c.1909_1911del	NP_000044.2:p.Asn637del
NM_001005918.2:c.1869+2998_1869+3000del	NP_001005918.1:n.1869+2998_1869+3000del
NM_001243182.1:c.1576_1578del	NP_001230111.1:p.Asn526del
XM_005266423.2:c.1813_1815del	XP_005266480.1:p.Asn605del
XM_005266424.3:c.1813_1815del	XP_005266481.1:p.Asn605del
XM_005266427.2:c.1909_1911del	XP_005266484.1:p.Asn637del
XM_005266428.1:c.1869+2998_1869+3000del	XP_005266485.1:n.1869+2998_1869+3000del
XM_005266430.3:c.1909_1911del	XP_005266487.1:p.Asn637del
XM_005266431.2:c.1873_1875del	XP_005266488.1:p.Asn625del
XM_005266432.2:c.1869+2998_1869+3000del	XP_005266489.1:n.1869+2998_1869+3000del
XM_006719837.2:c.1813_1815del	XP_006719900.1:p.Asn605del
XM_006719838.1:c.-101_-99del	XP_006719901.1:n.-101_-99del
XM_006719839.1:c.-101_-99del	XP_006719902.1:n.-101_-99del
XM_011535117.1:c.1813_1815del	XP_011533419.1:p.Asn605del
XM_011535118.1:c.1909_1911del	XP_011533420.1:p.Asn637del
XM_011535119.1:c.1909_1911del	XP_011533421.1:p.Asn637del
XM_011535120.1:c.1708-3330_1708-3328del	XP_011533422.1:n.1708-3330_1708-3328del
XM_011535121.1:c.1909_1911del	XP_011533423.1:p.Asn637del
XM_011535122.1:c.577_579del	XP_011533424.1:p.Asn193del
XR_941601.1:n.2128_2130del
XR_941602.1:n.2128_2130del
XR_941603.1:n.2128_2130del
XR_941604.1:n.2128_2130del
NM_001330578.1:c.1909_1911del	NP_001317507.1:p.Asn637del
NM_001330579.1:c.1869+2998_1869+3000del	NP_001317508.1:n.1869+2998_1869+3000del
XM_005266424.4:c.1813_1815del	XP_005266481.1:p.Asn605del
XM_005266430.4:c.1909_1911del	XP_005266487.1:p.Asn637del
XM_005266431.4:c.1873_1875del	XP_005266488.1:p.Asn625del
XM_006719837.3:c.1813_1815del	XP_006719900.1:p.Asn605del
XM_011535117.3:c.1813_1815del	XP_011533419.1:p.Asn605del
XM_017020627.1:c.1813_1815del	XP_016876116.1:p.Asn605del
NM_000053.4:c.1909_1911del MANE Select	NP_000044.2:p.Asn637del
NM_001005918.3:c.1869+2998_1869+3000del	NP_001005918.1:n.1869+2998_1869+3000del
NM_001330579.2:c.1869+2998_1869+3000del	NP_001317508.1:n.1869+2998_1869+3000del
NM_001243182.2:c.1576_1578del	NP_001230111.1:p.Asn526del
NM_001330578.2:c.1909_1911del	NP_001317507.1:p.Asn637del