Canonical Allele Identifier: CA2091553015

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937099_51937101delinsCCA , CM000675.2:g.51937099_51937101delinsCCA	GRCh38
NC_000013.10:g.52511235_52511237delinsCCA , CM000675.1:g.52511235_52511237delinsCCA	GRCh37
NC_000013.9:g.51409236_51409238delinsCCA	NCBI36
NG_008806.1:g.79394_79396delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1671+175_*1671+177delinsTGG	ENSP00000489512.2:n.*1671+175_*1671+177delinsTGG
ENST00000673864.2:c.*2765+175_*2765+177delinsTGG	ENSP00000501045.2:n.*2765+175_*2765+177delinsTGG
ENST00000674147.2:c.3400+175_3400+177delinsTGG	ENSP00000500964.2:n.3400+175_3400+177delinsTGG
ENST00000242839.10:c.4021+175_4021+177delinsTGG MANE Select	ENSP00000242839.5:n.4021+175_4021+177delinsTGG
ENST00000344297.9:c.3400+175_3400+177delinsTGG	ENSP00000342559.5:n.3400+175_3400+177delinsTGG
ENST00000400366.6:c.3688+175_3688+177delinsTGG	ENSP00000383217.3:n.3688+175_3688+177delinsTGG
ENST00000448424.7:c.3769+175_3769+177delinsTGG	ENSP00000416738.3:n.3769+175_3769+177delinsTGG
ENST00000673696.1:n.1344+175_1344+177delinsTGG
ENST00000673772.1:c.3787+175_3787+177delinsTGG	ENSP00000501168.1:n.3787+175_3787+177delinsTGG
ENST00000673867.1:n.4160+175_4160+177delinsTGG
ENST00000673923.1:n.887+175_887+177delinsTGG
ENST00000674147.1:c.2956+175_2956+177delinsTGG	ENSP00000500964.1:n.2956+175_2956+177delinsTGG
ENST00000242839.8:c.4021+175_4021+177delinsTGG	ENSP00000242839.4:n.4021+175_4021+177delinsTGG
ENST00000344297.8:c.3400+175_3400+177delinsTGG	ENSP00000342559.5:n.3400+175_3400+177delinsTGG
ENST00000400366.5:c.3688+175_3688+177delinsTGG	ENSP00000383217.3:n.3688+175_3688+177delinsTGG
ENST00000400370.8:c.2731+175_2731+177delinsTGG	ENSP00000383221.3:n.2731+175_2731+177delinsTGG
ENST00000418097.7:c.3826+175_3826+177delinsTGG	ENSP00000393343.2:n.3826+175_3826+177delinsTGG
ENST00000448424.6:c.3787+175_3787+177delinsTGG	ENSP00000416738.2:n.3787+175_3787+177delinsTGG
ENST00000634296.1:c.1799+175_1799+177delinsTGG
ENST00000634308.1:c.*1122+175_*1122+177delinsTGG	ENSP00000489234.1:n.*1122+175_*1122+177delinsTGG
ENST00000634620.1:n.4765+175_4765+177delinsTGG
ENST00000634810.1:n.3366+175_3366+177delinsTGG
ENST00000634844.1:c.3877+175_3877+177delinsTGG	ENSP00000489398.1:n.3877+175_3877+177delinsTGG
NM_000053.3:c.4021+175_4021+177delinsTGG	NP_000044.2:n.4021+175_4021+177delinsTGG
NM_001005918.2:c.3400+175_3400+177delinsTGG	NP_001005918.1:n.3400+175_3400+177delinsTGG
NM_001243182.1:c.3688+175_3688+177delinsTGG	NP_001230111.1:n.3688+175_3688+177delinsTGG
XM_005266423.2:c.3925+175_3925+177delinsTGG	XP_005266480.1:n.3925+175_3925+177delinsTGG
XM_005266424.3:c.3925+175_3925+177delinsTGG	XP_005266481.1:n.3925+175_3925+177delinsTGG
XM_005266427.2:c.3787+175_3787+177delinsTGG	XP_005266484.1:n.3787+175_3787+177delinsTGG
XM_005266428.1:c.3769+175_3769+177delinsTGG	XP_005266485.1:n.3769+175_3769+177delinsTGG
XM_005266430.3:c.4021+175_4021+177delinsTGG	XP_005266487.1:n.4021+175_4021+177delinsTGG
XM_005266431.2:c.3985+175_3985+177delinsTGG	XP_005266488.1:n.3985+175_3985+177delinsTGG
XM_005266432.2:c.3535+175_3535+177delinsTGG	XP_005266489.1:n.3535+175_3535+177delinsTGG
XM_006719837.2:c.3925+175_3925+177delinsTGG	XP_006719900.1:n.3925+175_3925+177delinsTGG
XM_006719838.1:c.1837+175_1837+177delinsTGG	XP_006719901.1:n.1837+175_1837+177delinsTGG
XM_006719839.1:c.1654+175_1654+177delinsTGG	XP_006719902.1:n.1654+175_1654+177delinsTGG
XM_011535117.1:c.3925+175_3925+177delinsTGG	XP_011533419.1:n.3925+175_3925+177delinsTGG
XM_011535118.1:c.3886+175_3886+177delinsTGG	XP_011533420.1:n.3886+175_3886+177delinsTGG
XM_011535119.1:c.3838+175_3838+177delinsTGG	XP_011533421.1:n.3838+175_3838+177delinsTGG
XM_011535120.1:c.3607+175_3607+177delinsTGG	XP_011533422.1:n.3607+175_3607+177delinsTGG
XM_011535121.1:c.3508+175_3508+177delinsTGG	XP_011533423.1:n.3508+175_3508+177delinsTGG
XM_011535122.1:c.2689+175_2689+177delinsTGG	XP_011533424.1:n.2689+175_2689+177delinsTGG
XR_941601.1:n.4240+175_4240+177delinsTGG
XR_941602.1:n.4240+175_4240+177delinsTGG
XR_941603.1:n.4240+175_4240+177delinsTGG
XR_941604.1:n.4240+175_4240+177delinsTGG
NM_001330578.1:c.3787+175_3787+177delinsTGG	NP_001317507.1:n.3787+175_3787+177delinsTGG
NM_001330579.1:c.3769+175_3769+177delinsTGG	NP_001317508.1:n.3769+175_3769+177delinsTGG
XM_005266424.4:c.3925+175_3925+177delinsTGG	XP_005266481.1:n.3925+175_3925+177delinsTGG
XM_005266430.4:c.4021+175_4021+177delinsTGG	XP_005266487.1:n.4021+175_4021+177delinsTGG
XM_005266431.4:c.3985+175_3985+177delinsTGG	XP_005266488.1:n.3985+175_3985+177delinsTGG
XM_006719837.3:c.3925+175_3925+177delinsTGG	XP_006719900.1:n.3925+175_3925+177delinsTGG
XM_011535117.3:c.3925+175_3925+177delinsTGG	XP_011533419.1:n.3925+175_3925+177delinsTGG
XM_017020627.1:c.3925+175_3925+177delinsTGG	XP_016876116.1:n.3925+175_3925+177delinsTGG
NM_000053.4:c.4021+175_4021+177delinsTGG MANE Select	NP_000044.2:n.4021+175_4021+177delinsTGG
NM_001005918.3:c.3400+175_3400+177delinsTGG	NP_001005918.1:n.3400+175_3400+177delinsTGG
NM_001330579.2:c.3769+175_3769+177delinsTGG	NP_001317508.1:n.3769+175_3769+177delinsTGG
NM_001243182.2:c.3688+175_3688+177delinsTGG	NP_001230111.1:n.3688+175_3688+177delinsTGG
NM_001330578.2:c.3787+175_3787+177delinsTGG	NP_001317507.1:n.3787+175_3787+177delinsTGG