Canonical Allele Identifier: CA2623118940

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937198-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937200_51937201del , CM000675.2:g.51937200_51937201del	GRCh38
NC_000013.10:g.52511336_52511337del , CM000675.1:g.52511336_52511337del	GRCh37
NC_000013.9:g.51409337_51409338del	NCBI36
NG_008806.1:g.79295_79296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1671+76_*1671+77del	ENSP00000489512.2:n.*1671+76_*1671+77del
ENST00000673864.2:c.*2765+76_*2765+77del	ENSP00000501045.2:n.*2765+76_*2765+77del
ENST00000674147.2:c.3400+76_3400+77del	ENSP00000500964.2:n.3400+76_3400+77del
ENST00000242839.10:c.4021+76_4021+77del MANE Select	ENSP00000242839.5:n.4021+76_4021+77del
ENST00000344297.9:c.3400+76_3400+77del	ENSP00000342559.5:n.3400+76_3400+77del
ENST00000400366.6:c.3688+76_3688+77del	ENSP00000383217.3:n.3688+76_3688+77del
ENST00000448424.7:c.3769+76_3769+77del	ENSP00000416738.3:n.3769+76_3769+77del
ENST00000673696.1:n.1344+76_1344+77del
ENST00000673772.1:c.3787+76_3787+77del	ENSP00000501168.1:n.3787+76_3787+77del
ENST00000673867.1:n.4160+76_4160+77del
ENST00000673923.1:n.887+76_887+77del
ENST00000674147.1:c.2956+76_2956+77del	ENSP00000500964.1:n.2956+76_2956+77del
ENST00000242839.8:c.4021+76_4021+77del	ENSP00000242839.4:n.4021+76_4021+77del
ENST00000344297.8:c.3400+76_3400+77del	ENSP00000342559.5:n.3400+76_3400+77del
ENST00000400366.5:c.3688+76_3688+77del	ENSP00000383217.3:n.3688+76_3688+77del
ENST00000400370.8:c.2731+76_2731+77del	ENSP00000383221.3:n.2731+76_2731+77del
ENST00000418097.7:c.3826+76_3826+77del	ENSP00000393343.2:n.3826+76_3826+77del
ENST00000448424.6:c.3787+76_3787+77del	ENSP00000416738.2:n.3787+76_3787+77del
ENST00000634296.1:c.1799+76_1799+77del
ENST00000634308.1:c.*1122+76_*1122+77del	ENSP00000489234.1:n.*1122+76_*1122+77del
ENST00000634620.1:n.4765+76_4765+77del
ENST00000634810.1:n.3366+76_3366+77del
ENST00000634844.1:c.3877+76_3877+77del	ENSP00000489398.1:n.3877+76_3877+77del
NM_000053.3:c.4021+76_4021+77del	NP_000044.2:n.4021+76_4021+77del
NM_001005918.2:c.3400+76_3400+77del	NP_001005918.1:n.3400+76_3400+77del
NM_001243182.1:c.3688+76_3688+77del	NP_001230111.1:n.3688+76_3688+77del
XM_005266423.2:c.3925+76_3925+77del	XP_005266480.1:n.3925+76_3925+77del
XM_005266424.3:c.3925+76_3925+77del	XP_005266481.1:n.3925+76_3925+77del
XM_005266427.2:c.3787+76_3787+77del	XP_005266484.1:n.3787+76_3787+77del
XM_005266428.1:c.3769+76_3769+77del	XP_005266485.1:n.3769+76_3769+77del
XM_005266430.3:c.4021+76_4021+77del	XP_005266487.1:n.4021+76_4021+77del
XM_005266431.2:c.3985+76_3985+77del	XP_005266488.1:n.3985+76_3985+77del
XM_005266432.2:c.3535+76_3535+77del	XP_005266489.1:n.3535+76_3535+77del
XM_006719837.2:c.3925+76_3925+77del	XP_006719900.1:n.3925+76_3925+77del
XM_006719838.1:c.1837+76_1837+77del	XP_006719901.1:n.1837+76_1837+77del
XM_006719839.1:c.1654+76_1654+77del	XP_006719902.1:n.1654+76_1654+77del
XM_011535117.1:c.3925+76_3925+77del	XP_011533419.1:n.3925+76_3925+77del
XM_011535118.1:c.3886+76_3886+77del	XP_011533420.1:n.3886+76_3886+77del
XM_011535119.1:c.3838+76_3838+77del	XP_011533421.1:n.3838+76_3838+77del
XM_011535120.1:c.3607+76_3607+77del	XP_011533422.1:n.3607+76_3607+77del
XM_011535121.1:c.3508+76_3508+77del	XP_011533423.1:n.3508+76_3508+77del
XM_011535122.1:c.2689+76_2689+77del	XP_011533424.1:n.2689+76_2689+77del
XR_941601.1:n.4240+76_4240+77del
XR_941602.1:n.4240+76_4240+77del
XR_941603.1:n.4240+76_4240+77del
XR_941604.1:n.4240+76_4240+77del
NM_001330578.1:c.3787+76_3787+77del	NP_001317507.1:n.3787+76_3787+77del
NM_001330579.1:c.3769+76_3769+77del	NP_001317508.1:n.3769+76_3769+77del
XM_005266424.4:c.3925+76_3925+77del	XP_005266481.1:n.3925+76_3925+77del
XM_005266430.4:c.4021+76_4021+77del	XP_005266487.1:n.4021+76_4021+77del
XM_005266431.4:c.3985+76_3985+77del	XP_005266488.1:n.3985+76_3985+77del
XM_006719837.3:c.3925+76_3925+77del	XP_006719900.1:n.3925+76_3925+77del
XM_011535117.3:c.3925+76_3925+77del	XP_011533419.1:n.3925+76_3925+77del
XM_017020627.1:c.3925+76_3925+77del	XP_016876116.1:n.3925+76_3925+77del
NM_000053.4:c.4021+76_4021+77del MANE Select	NP_000044.2:n.4021+76_4021+77del
NM_001005918.3:c.3400+76_3400+77del	NP_001005918.1:n.3400+76_3400+77del
NM_001330579.2:c.3769+76_3769+77del	NP_001317508.1:n.3769+76_3769+77del
NM_001243182.2:c.3688+76_3688+77del	NP_001230111.1:n.3688+76_3688+77del
NM_001330578.2:c.3787+76_3787+77del	NP_001317507.1:n.3787+76_3787+77del