Canonical Allele Identifier: CA2091553056

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937139_51937143delinsGAAAA , CM000675.2:g.51937139_51937143delinsGAAAA	GRCh38
NC_000013.10:g.52511275_52511279delinsGAAAA , CM000675.1:g.52511275_52511279delinsGAAAA	GRCh37
NC_000013.9:g.51409276_51409280delinsGAAAA	NCBI36
NG_008806.1:g.79352_79356delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1671+133_*1671+137delinsTTTTC	ENSP00000489512.2:n.*1671+133_*1671+137delinsTTTTC
ENST00000673864.2:c.*2765+133_*2765+137delinsTTTTC	ENSP00000501045.2:n.*2765+133_*2765+137delinsTTTTC
ENST00000674147.2:c.3400+133_3400+137delinsTTTTC	ENSP00000500964.2:n.3400+133_3400+137delinsTTTTC
ENST00000242839.10:c.4021+133_4021+137delinsTTTTC MANE Select	ENSP00000242839.5:n.4021+133_4021+137delinsTTTTC
ENST00000344297.9:c.3400+133_3400+137delinsTTTTC	ENSP00000342559.5:n.3400+133_3400+137delinsTTTTC
ENST00000400366.6:c.3688+133_3688+137delinsTTTTC	ENSP00000383217.3:n.3688+133_3688+137delinsTTTTC
ENST00000448424.7:c.3769+133_3769+137delinsTTTTC	ENSP00000416738.3:n.3769+133_3769+137delinsTTTTC
ENST00000673696.1:n.1344+133_1344+137delinsTTTTC
ENST00000673772.1:c.3787+133_3787+137delinsTTTTC	ENSP00000501168.1:n.3787+133_3787+137delinsTTTTC
ENST00000673867.1:n.4160+133_4160+137delinsTTTTC
ENST00000673923.1:n.887+133_887+137delinsTTTTC
ENST00000674147.1:c.2956+133_2956+137delinsTTTTC	ENSP00000500964.1:n.2956+133_2956+137delinsTTTTC
ENST00000242839.8:c.4021+133_4021+137delinsTTTTC	ENSP00000242839.4:n.4021+133_4021+137delinsTTTTC
ENST00000344297.8:c.3400+133_3400+137delinsTTTTC	ENSP00000342559.5:n.3400+133_3400+137delinsTTTTC
ENST00000400366.5:c.3688+133_3688+137delinsTTTTC	ENSP00000383217.3:n.3688+133_3688+137delinsTTTTC
ENST00000400370.8:c.2731+133_2731+137delinsTTTTC	ENSP00000383221.3:n.2731+133_2731+137delinsTTTTC
ENST00000418097.7:c.3826+133_3826+137delinsTTTTC	ENSP00000393343.2:n.3826+133_3826+137delinsTTTTC
ENST00000448424.6:c.3787+133_3787+137delinsTTTTC	ENSP00000416738.2:n.3787+133_3787+137delinsTTTTC
ENST00000634296.1:c.1799+133_1799+137delinsTTTTC
ENST00000634308.1:c.*1122+133_*1122+137delinsTTTTC	ENSP00000489234.1:n.*1122+133_*1122+137delinsTTTTC
ENST00000634620.1:n.4765+133_4765+137delinsTTTTC
ENST00000634810.1:n.3366+133_3366+137delinsTTTTC
ENST00000634844.1:c.3877+133_3877+137delinsTTTTC	ENSP00000489398.1:n.3877+133_3877+137delinsTTTTC
NM_000053.3:c.4021+133_4021+137delinsTTTTC	NP_000044.2:n.4021+133_4021+137delinsTTTTC
NM_001005918.2:c.3400+133_3400+137delinsTTTTC	NP_001005918.1:n.3400+133_3400+137delinsTTTTC
NM_001243182.1:c.3688+133_3688+137delinsTTTTC	NP_001230111.1:n.3688+133_3688+137delinsTTTTC
XM_005266423.2:c.3925+133_3925+137delinsTTTTC	XP_005266480.1:n.3925+133_3925+137delinsTTTTC
XM_005266424.3:c.3925+133_3925+137delinsTTTTC	XP_005266481.1:n.3925+133_3925+137delinsTTTTC
XM_005266427.2:c.3787+133_3787+137delinsTTTTC	XP_005266484.1:n.3787+133_3787+137delinsTTTTC
XM_005266428.1:c.3769+133_3769+137delinsTTTTC	XP_005266485.1:n.3769+133_3769+137delinsTTTTC
XM_005266430.3:c.4021+133_4021+137delinsTTTTC	XP_005266487.1:n.4021+133_4021+137delinsTTTTC
XM_005266431.2:c.3985+133_3985+137delinsTTTTC	XP_005266488.1:n.3985+133_3985+137delinsTTTTC
XM_005266432.2:c.3535+133_3535+137delinsTTTTC	XP_005266489.1:n.3535+133_3535+137delinsTTTTC
XM_006719837.2:c.3925+133_3925+137delinsTTTTC	XP_006719900.1:n.3925+133_3925+137delinsTTTTC
XM_006719838.1:c.1837+133_1837+137delinsTTTTC	XP_006719901.1:n.1837+133_1837+137delinsTTTTC
XM_006719839.1:c.1654+133_1654+137delinsTTTTC	XP_006719902.1:n.1654+133_1654+137delinsTTTTC
XM_011535117.1:c.3925+133_3925+137delinsTTTTC	XP_011533419.1:n.3925+133_3925+137delinsTTTTC
XM_011535118.1:c.3886+133_3886+137delinsTTTTC	XP_011533420.1:n.3886+133_3886+137delinsTTTTC
XM_011535119.1:c.3838+133_3838+137delinsTTTTC	XP_011533421.1:n.3838+133_3838+137delinsTTTTC
XM_011535120.1:c.3607+133_3607+137delinsTTTTC	XP_011533422.1:n.3607+133_3607+137delinsTTTTC
XM_011535121.1:c.3508+133_3508+137delinsTTTTC	XP_011533423.1:n.3508+133_3508+137delinsTTTTC
XM_011535122.1:c.2689+133_2689+137delinsTTTTC	XP_011533424.1:n.2689+133_2689+137delinsTTTTC
XR_941601.1:n.4240+133_4240+137delinsTTTTC
XR_941602.1:n.4240+133_4240+137delinsTTTTC
XR_941603.1:n.4240+133_4240+137delinsTTTTC
XR_941604.1:n.4240+133_4240+137delinsTTTTC
NM_001330578.1:c.3787+133_3787+137delinsTTTTC	NP_001317507.1:n.3787+133_3787+137delinsTTTTC
NM_001330579.1:c.3769+133_3769+137delinsTTTTC	NP_001317508.1:n.3769+133_3769+137delinsTTTTC
XM_005266424.4:c.3925+133_3925+137delinsTTTTC	XP_005266481.1:n.3925+133_3925+137delinsTTTTC
XM_005266430.4:c.4021+133_4021+137delinsTTTTC	XP_005266487.1:n.4021+133_4021+137delinsTTTTC
XM_005266431.4:c.3985+133_3985+137delinsTTTTC	XP_005266488.1:n.3985+133_3985+137delinsTTTTC
XM_006719837.3:c.3925+133_3925+137delinsTTTTC	XP_006719900.1:n.3925+133_3925+137delinsTTTTC
XM_011535117.3:c.3925+133_3925+137delinsTTTTC	XP_011533419.1:n.3925+133_3925+137delinsTTTTC
XM_017020627.1:c.3925+133_3925+137delinsTTTTC	XP_016876116.1:n.3925+133_3925+137delinsTTTTC
NM_000053.4:c.4021+133_4021+137delinsTTTTC MANE Select	NP_000044.2:n.4021+133_4021+137delinsTTTTC
NM_001005918.3:c.3400+133_3400+137delinsTTTTC	NP_001005918.1:n.3400+133_3400+137delinsTTTTC
NM_001330579.2:c.3769+133_3769+137delinsTTTTC	NP_001317508.1:n.3769+133_3769+137delinsTTTTC
NM_001243182.2:c.3688+133_3688+137delinsTTTTC	NP_001230111.1:n.3688+133_3688+137delinsTTTTC
NM_001330578.2:c.3787+133_3787+137delinsTTTTC	NP_001317507.1:n.3787+133_3787+137delinsTTTTC