Canonical Allele Identifier: CA719730570

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 1323768
• ClinVar RCV Id: RCV001785142
• dbSNP Id: rs1187948767
• gnomAD v3: 16-28887231-AC-A
• gnomAD v4: 16-28887231-AC-A
• MyVariant Identifiers: chr16:g.28898553del (hg19) ; chr16:g.28887232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28887236del , CM000678.2:g.28887236del	GRCh38
NC_000016.9:g.28898557del , CM000678.1:g.28898557del	GRCh37
NC_000016.8:g.28806058del	NCBI36
NG_023327.1:g.13749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.592del MANE Select	ENSP00000378879.5:p.Arg198GlufsTer?
ENST00000357084.7:c.592del	ENSP00000349595.3:p.Arg198GlufsTer?
ENST00000395503.8:c.592del	ENSP00000378879.4:p.Arg198GlufsTer?
ENST00000536376.5:c.217del	ENSP00000443101.1:p.Arg73GlufsTer?
NM_001286075.1:c.217del	NP_001273004.1:p.Arg73GlufsTer?
NM_004320.4:c.592del	NP_004311.1:p.Arg198GlufsTer?
NM_173201.3:c.592del	NP_775293.1:p.Arg198GlufsTer?
NM_004320.6:c.592del MANE Select	NP_004311.1:p.Arg198GlufsTer?
NM_173201.4:c.592del	NP_775293.1:p.Arg198GlufsTer?
NM_001286075.2:c.217del	NP_001273004.1:p.Arg73GlufsTer?
NM_173201.5:c.592del	NP_775293.1:p.Arg198GlufsTer?