Canonical Allele Identifier: CA10634477

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 312364
• ClinVar RCV Id: RCV000384277
• dbSNP Id: rs886050301
• gnomAD v3: 13-51933758-ACAGT-A
• gnomAD v4: 13-51933758-ACAGT-A
• MyVariant Identifiers: chr13:g.52507895_52507898del (hg19) ; chr13:g.51933759_51933762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51933762_51933765del , CM000675.2:g.51933762_51933765del	GRCh38
NC_000013.10:g.52507898_52507901del , CM000675.1:g.52507898_52507901del	GRCh37
NC_000013.9:g.51405899_51405902del	NCBI36
NG_008806.1:g.82733_82736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000673864.2:c.*4136_*4139del	ENSP00000501045.2:n.*4136_*4139del
ENST00000674147.2:c.*994_*997del	ENSP00000500964.2:n.*994_*997del
ENST00000242839.10:c.*994_*997del MANE Select	ENSP00000242839.5:n.*994_*997del
ENST00000344297.9:c.*994_*997del	ENSP00000342559.5:n.*994_*997del
ENST00000448424.7:c.*994_*997del	ENSP00000416738.3:n.*994_*997del
ENST00000673696.1:n.2188-445_2188-442del
ENST00000673867.1:n.5531_5534del
ENST00000673923.1:n.2258_2261del
ENST00000674147.1:c.4327_4330del	ENSP00000500964.1:n.4327_4330del
ENST00000242839.8:c.*994_*997del	ENSP00000242839.4:n.*994_*997del
ENST00000344297.8:c.*994_*997del	ENSP00000342559.5:n.*994_*997del
ENST00000400366.5:c.*994_*997del	ENSP00000383217.3:n.*994_*997del
ENST00000448424.6:c.*994_*997del	ENSP00000416738.2:n.*994_*997del
ENST00000634519.1:n.233-445_233-442del
ENST00000634810.1:n.4737_4740del
NM_000053.3:c.*994_*997del	NP_000044.2:n.*994_*997del
NM_001005918.2:c.*994_*997del	NP_001005918.1:n.*994_*997del
NM_001243182.1:c.*994_*997del	NP_001230111.1:n.*994_*997del
XM_005266423.2:c.*994_*997del	XP_005266480.1:n.*994_*997del
XM_005266424.3:c.*994_*997del	XP_005266481.1:n.*994_*997del
XM_005266427.2:c.*994_*997del	XP_005266484.1:n.*994_*997del
XM_005266428.1:c.*994_*997del	XP_005266485.1:n.*994_*997del
XM_005266430.3:c.*994_*997del	XP_005266487.1:n.*994_*997del
XM_005266431.2:c.*994_*997del	XP_005266488.1:n.*994_*997del
XM_005266432.2:c.*994_*997del	XP_005266489.1:n.*994_*997del
XM_006719837.2:c.*994_*997del	XP_006719900.1:n.*994_*997del
XM_006719838.1:c.*994_*997del	XP_006719901.1:n.*994_*997del
XM_006719839.1:c.*994_*997del	XP_006719902.1:n.*994_*997del
XM_011535117.1:c.*994_*997del	XP_011533419.1:n.*994_*997del
XM_011535118.1:c.*994_*997del	XP_011533420.1:n.*994_*997del
XM_011535119.1:c.*994_*997del	XP_011533421.1:n.*994_*997del
XM_011535120.1:c.*994_*997del	XP_011533422.1:n.*994_*997del
XM_011535121.1:c.*994_*997del	XP_011533423.1:n.*994_*997del
XM_011535122.1:c.*994_*997del	XP_011533424.1:n.*994_*997del
XR_941601.1:n.5611_5614del
XR_941602.1:n.5611_5614del
XR_941603.1:n.5611_5614del
XR_941604.1:n.5084-445_5084-442del
NM_001330578.1:c.*994_*997del	NP_001317507.1:n.*994_*997del
NM_001330579.1:c.*994_*997del	NP_001317508.1:n.*994_*997del
XM_005266424.4:c.*994_*997del	XP_005266481.1:n.*994_*997del
XM_005266430.4:c.*994_*997del	XP_005266487.1:n.*994_*997del
XM_005266431.4:c.*994_*997del	XP_005266488.1:n.*994_*997del
XM_006719837.3:c.*994_*997del	XP_006719900.1:n.*994_*997del
XM_011535117.3:c.*994_*997del	XP_011533419.1:n.*994_*997del
XM_017020627.1:c.*994_*997del	XP_016876116.1:n.*994_*997del
NM_000053.4:c.*994_*997del MANE Select	NP_000044.2:n.*994_*997del
NM_001005918.3:c.*994_*997del	NP_001005918.1:n.*994_*997del
NM_001330579.2:c.*994_*997del	NP_001317508.1:n.*994_*997del
NM_001243182.2:c.*994_*997del	NP_001230111.1:n.*994_*997del
NM_001330578.2:c.*994_*997del	NP_001317507.1:n.*994_*997del