Canonical Allele Identifier: CA149602

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 96541
• ClinVar RCV Id: RCV000082696 ; RCV000290200 ; RCV001719849
• dbSNP Id: rs66716803
• ExAC: 16:28909777 GC / G
• gnomAD v2: 16-28909777-GC-G
• gnomAD v3: 16-28898456-GC-G
• gnomAD v4: 16-28898456-GC-G
• MyVariant Identifiers: chr16:g.28909778del (hg19) ; chr16:g.28909778delC (hg19) ; chr16:g.28898457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28898457del , CM000678.2:g.28898457del	GRCh38
NC_000016.9:g.28909778del , CM000678.1:g.28909778del	GRCh37
NC_000016.8:g.28817279del	NCBI36
NG_023327.1:g.24970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.1764+6del MANE Select	ENSP00000378879.5:n.1764+6del
ENST00000357084.7:c.1764+6del	ENSP00000349595.3:n.1764+6del
ENST00000395503.8:c.1764+6del	ENSP00000378879.4:n.1764+6del
ENST00000536376.5:c.1389+6del	ENSP00000443101.1:n.1389+6del
ENST00000564732.1:c.793+6del
NM_001286075.1:c.1389+6del	NP_001273004.1:n.1389+6del
NM_004320.4:c.1764+6del	NP_004311.1:n.1764+6del
NM_173201.3:c.1764+6del	NP_775293.1:n.1764+6del
NM_004320.6:c.1764+6del MANE Select	NP_004311.1:n.1764+6del
NM_173201.4:c.1764+6del	NP_775293.1:n.1764+6del
NM_001286075.2:c.1389+6del	NP_001273004.1:n.1389+6del
NM_173201.5:c.1764+6del	NP_775293.1:n.1764+6del