Canonical Allele Identifier: CA698881164

Gene: ATP7B

Linked Data

• dbSNP Id: rs1489645408
• gnomAD v4: 13-51938922-TGGA-T
• MyVariant Identifiers: chr13:g.52513059_52513061del (hg19) ; chr13:g.51938923_51938925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51938924_51938926del , CM000675.2:g.51938924_51938926del	GRCh38
NC_000013.10:g.52513060_52513062del , CM000675.1:g.52513060_52513062del	GRCh37
NC_000013.9:g.51411061_51411063del	NCBI36
NG_008806.1:g.77570_77572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1349+126_*1349+128del	ENSP00000489512.2:n.*1349+126_*1349+128del
ENST00000673864.2:c.*2443+126_*2443+128del	ENSP00000501045.2:n.*2443+126_*2443+128del
ENST00000674147.2:c.3078+126_3078+128del	ENSP00000500964.2:n.3078+126_3078+128del
ENST00000242839.10:c.3699+126_3699+128del MANE Select	ENSP00000242839.5:n.3699+126_3699+128del
ENST00000344297.9:c.3078+126_3078+128del	ENSP00000342559.5:n.3078+126_3078+128del
ENST00000400366.6:c.3366+126_3366+128del	ENSP00000383217.3:n.3366+126_3366+128del
ENST00000448424.7:c.3447+126_3447+128del	ENSP00000416738.3:n.3447+126_3447+128del
ENST00000673696.1:n.940+126_940+128del
ENST00000673772.1:c.3465+126_3465+128del	ENSP00000501168.1:n.3465+126_3465+128del
ENST00000673867.1:n.3838+126_3838+128del
ENST00000673923.1:n.565+126_565+128del
ENST00000674147.1:c.2634+126_2634+128del	ENSP00000500964.1:n.2634+126_2634+128del
ENST00000242839.8:c.3699+126_3699+128del	ENSP00000242839.4:n.3699+126_3699+128del
ENST00000344297.8:c.3078+126_3078+128del	ENSP00000342559.5:n.3078+126_3078+128del
ENST00000400366.5:c.3366+126_3366+128del	ENSP00000383217.3:n.3366+126_3366+128del
ENST00000400370.8:c.2409+126_2409+128del	ENSP00000383221.3:n.2409+126_2409+128del
ENST00000418097.7:c.3504+126_3504+128del	ENSP00000393343.2:n.3504+126_3504+128del
ENST00000448424.6:c.3465+126_3465+128del	ENSP00000416738.2:n.3465+126_3465+128del
ENST00000634296.1:c.1477+126_1477+128del
ENST00000634308.1:c.*800+126_*800+128del	ENSP00000489234.1:n.*800+126_*800+128del
ENST00000634620.1:n.4443+126_4443+128del
ENST00000634810.1:n.3044+126_3044+128del
ENST00000634844.1:c.3555+126_3555+128del	ENSP00000489398.1:n.3555+126_3555+128del
NM_000053.3:c.3699+126_3699+128del	NP_000044.2:n.3699+126_3699+128del
NM_001005918.2:c.3078+126_3078+128del	NP_001005918.1:n.3078+126_3078+128del
NM_001243182.1:c.3366+126_3366+128del	NP_001230111.1:n.3366+126_3366+128del
XM_005266423.2:c.3603+126_3603+128del	XP_005266480.1:n.3603+126_3603+128del
XM_005266424.3:c.3603+126_3603+128del	XP_005266481.1:n.3603+126_3603+128del
XM_005266427.2:c.3465+126_3465+128del	XP_005266484.1:n.3465+126_3465+128del
XM_005266428.1:c.3447+126_3447+128del	XP_005266485.1:n.3447+126_3447+128del
XM_005266430.3:c.3699+126_3699+128del	XP_005266487.1:n.3699+126_3699+128del
XM_005266431.2:c.3663+126_3663+128del	XP_005266488.1:n.3663+126_3663+128del
XM_005266432.2:c.3213+126_3213+128del	XP_005266489.1:n.3213+126_3213+128del
XM_006719837.2:c.3603+126_3603+128del	XP_006719900.1:n.3603+126_3603+128del
XM_006719838.1:c.1515+126_1515+128del	XP_006719901.1:n.1515+126_1515+128del
XM_006719839.1:c.1332+126_1332+128del	XP_006719902.1:n.1332+126_1332+128del
XM_011535117.1:c.3603+126_3603+128del	XP_011533419.1:n.3603+126_3603+128del
XM_011535118.1:c.3564+126_3564+128del	XP_011533420.1:n.3564+126_3564+128del
XM_011535119.1:c.3516+126_3516+128del	XP_011533421.1:n.3516+126_3516+128del
XM_011535120.1:c.3285+126_3285+128del	XP_011533422.1:n.3285+126_3285+128del
XM_011535121.1:c.3186+126_3186+128del	XP_011533423.1:n.3186+126_3186+128del
XM_011535122.1:c.2367+126_2367+128del	XP_011533424.1:n.2367+126_2367+128del
XR_941601.1:n.3918+126_3918+128del
XR_941602.1:n.3918+126_3918+128del
XR_941603.1:n.3918+126_3918+128del
XR_941604.1:n.3918+126_3918+128del
NM_001330578.1:c.3465+126_3465+128del	NP_001317507.1:n.3465+126_3465+128del
NM_001330579.1:c.3447+126_3447+128del	NP_001317508.1:n.3447+126_3447+128del
XM_005266424.4:c.3603+126_3603+128del	XP_005266481.1:n.3603+126_3603+128del
XM_005266430.4:c.3699+126_3699+128del	XP_005266487.1:n.3699+126_3699+128del
XM_005266431.4:c.3663+126_3663+128del	XP_005266488.1:n.3663+126_3663+128del
XM_006719837.3:c.3603+126_3603+128del	XP_006719900.1:n.3603+126_3603+128del
XM_011535117.3:c.3603+126_3603+128del	XP_011533419.1:n.3603+126_3603+128del
XM_017020627.1:c.3603+126_3603+128del	XP_016876116.1:n.3603+126_3603+128del
NM_000053.4:c.3699+126_3699+128del MANE Select	NP_000044.2:n.3699+126_3699+128del
NM_001005918.3:c.3078+126_3078+128del	NP_001005918.1:n.3078+126_3078+128del
NM_001330579.2:c.3447+126_3447+128del	NP_001317508.1:n.3447+126_3447+128del
NM_001243182.2:c.3366+126_3366+128del	NP_001230111.1:n.3366+126_3366+128del
NM_001330578.2:c.3465+126_3465+128del	NP_001317507.1:n.3465+126_3465+128del