Canonical Allele Identifier: CA2623118868

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937154-ACAGCCTTTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937155_51937164del , CM000675.2:g.51937155_51937164del	GRCh38
NC_000013.10:g.52511291_52511300del , CM000675.1:g.52511291_52511300del	GRCh37
NC_000013.9:g.51409292_51409301del	NCBI36
NG_008806.1:g.79331_79340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1671+112_*1671+121del	ENSP00000489512.2:n.*1671+112_*1671+121del
ENST00000673864.2:c.*2765+112_*2765+121del	ENSP00000501045.2:n.*2765+112_*2765+121del
ENST00000674147.2:c.3400+112_3400+121del	ENSP00000500964.2:n.3400+112_3400+121del
ENST00000242839.10:c.4021+112_4021+121del MANE Select	ENSP00000242839.5:n.4021+112_4021+121del
ENST00000344297.9:c.3400+112_3400+121del	ENSP00000342559.5:n.3400+112_3400+121del
ENST00000400366.6:c.3688+112_3688+121del	ENSP00000383217.3:n.3688+112_3688+121del
ENST00000448424.7:c.3769+112_3769+121del	ENSP00000416738.3:n.3769+112_3769+121del
ENST00000673696.1:n.1344+112_1344+121del
ENST00000673772.1:c.3787+112_3787+121del	ENSP00000501168.1:n.3787+112_3787+121del
ENST00000673867.1:n.4160+112_4160+121del
ENST00000673923.1:n.887+112_887+121del
ENST00000674147.1:c.2956+112_2956+121del	ENSP00000500964.1:n.2956+112_2956+121del
ENST00000242839.8:c.4021+112_4021+121del	ENSP00000242839.4:n.4021+112_4021+121del
ENST00000344297.8:c.3400+112_3400+121del	ENSP00000342559.5:n.3400+112_3400+121del
ENST00000400366.5:c.3688+112_3688+121del	ENSP00000383217.3:n.3688+112_3688+121del
ENST00000400370.8:c.2731+112_2731+121del	ENSP00000383221.3:n.2731+112_2731+121del
ENST00000418097.7:c.3826+112_3826+121del	ENSP00000393343.2:n.3826+112_3826+121del
ENST00000448424.6:c.3787+112_3787+121del	ENSP00000416738.2:n.3787+112_3787+121del
ENST00000634296.1:c.1799+112_1799+121del
ENST00000634308.1:c.*1122+112_*1122+121del	ENSP00000489234.1:n.*1122+112_*1122+121del
ENST00000634620.1:n.4765+112_4765+121del
ENST00000634810.1:n.3366+112_3366+121del
ENST00000634844.1:c.3877+112_3877+121del	ENSP00000489398.1:n.3877+112_3877+121del
NM_000053.3:c.4021+112_4021+121del	NP_000044.2:n.4021+112_4021+121del
NM_001005918.2:c.3400+112_3400+121del	NP_001005918.1:n.3400+112_3400+121del
NM_001243182.1:c.3688+112_3688+121del	NP_001230111.1:n.3688+112_3688+121del
XM_005266423.2:c.3925+112_3925+121del	XP_005266480.1:n.3925+112_3925+121del
XM_005266424.3:c.3925+112_3925+121del	XP_005266481.1:n.3925+112_3925+121del
XM_005266427.2:c.3787+112_3787+121del	XP_005266484.1:n.3787+112_3787+121del
XM_005266428.1:c.3769+112_3769+121del	XP_005266485.1:n.3769+112_3769+121del
XM_005266430.3:c.4021+112_4021+121del	XP_005266487.1:n.4021+112_4021+121del
XM_005266431.2:c.3985+112_3985+121del	XP_005266488.1:n.3985+112_3985+121del
XM_005266432.2:c.3535+112_3535+121del	XP_005266489.1:n.3535+112_3535+121del
XM_006719837.2:c.3925+112_3925+121del	XP_006719900.1:n.3925+112_3925+121del
XM_006719838.1:c.1837+112_1837+121del	XP_006719901.1:n.1837+112_1837+121del
XM_006719839.1:c.1654+112_1654+121del	XP_006719902.1:n.1654+112_1654+121del
XM_011535117.1:c.3925+112_3925+121del	XP_011533419.1:n.3925+112_3925+121del
XM_011535118.1:c.3886+112_3886+121del	XP_011533420.1:n.3886+112_3886+121del
XM_011535119.1:c.3838+112_3838+121del	XP_011533421.1:n.3838+112_3838+121del
XM_011535120.1:c.3607+112_3607+121del	XP_011533422.1:n.3607+112_3607+121del
XM_011535121.1:c.3508+112_3508+121del	XP_011533423.1:n.3508+112_3508+121del
XM_011535122.1:c.2689+112_2689+121del	XP_011533424.1:n.2689+112_2689+121del
XR_941601.1:n.4240+112_4240+121del
XR_941602.1:n.4240+112_4240+121del
XR_941603.1:n.4240+112_4240+121del
XR_941604.1:n.4240+112_4240+121del
NM_001330578.1:c.3787+112_3787+121del	NP_001317507.1:n.3787+112_3787+121del
NM_001330579.1:c.3769+112_3769+121del	NP_001317508.1:n.3769+112_3769+121del
XM_005266424.4:c.3925+112_3925+121del	XP_005266481.1:n.3925+112_3925+121del
XM_005266430.4:c.4021+112_4021+121del	XP_005266487.1:n.4021+112_4021+121del
XM_005266431.4:c.3985+112_3985+121del	XP_005266488.1:n.3985+112_3985+121del
XM_006719837.3:c.3925+112_3925+121del	XP_006719900.1:n.3925+112_3925+121del
XM_011535117.3:c.3925+112_3925+121del	XP_011533419.1:n.3925+112_3925+121del
XM_017020627.1:c.3925+112_3925+121del	XP_016876116.1:n.3925+112_3925+121del
NM_000053.4:c.4021+112_4021+121del MANE Select	NP_000044.2:n.4021+112_4021+121del
NM_001005918.3:c.3400+112_3400+121del	NP_001005918.1:n.3400+112_3400+121del
NM_001330579.2:c.3769+112_3769+121del	NP_001317508.1:n.3769+112_3769+121del
NM_001243182.2:c.3688+112_3688+121del	NP_001230111.1:n.3688+112_3688+121del
NM_001330578.2:c.3787+112_3787+121del	NP_001317507.1:n.3787+112_3787+121del