Canonical Allele Identifier: CA2573152281

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 1414230
• ClinVar RCV Id: RCV001928587
• dbSNP Id: rs2152213646

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900872_28900873del , CM000678.2:g.28900872_28900873del	GRCh38
NC_000016.9:g.28912193_28912194del , CM000678.1:g.28912193_28912194del	GRCh37
NC_000016.8:g.28819694_28819695del	NCBI36
NG_023327.1:g.27385_27386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2056_2057del MANE Select	ENSP00000378879.5:p.Lys686AspfsTer10
ENST00000357084.7:c.2056_2057del	ENSP00000349595.3:p.Lys686AspfsTer10
ENST00000395503.8:c.2056_2057del	ENSP00000378879.4:p.Lys686AspfsTer10
ENST00000536376.5:c.1681_1682del	ENSP00000443101.1:p.Lys561AspfsTer10
NM_001286075.1:c.1681_1682del	NP_001273004.1:p.Lys561AspfsTer10
NM_004320.4:c.2056_2057del	NP_004311.1:p.Lys686AspfsTer10
NM_173201.3:c.2056_2057del	NP_775293.1:p.Lys686AspfsTer10
NM_004320.6:c.2056_2057del MANE Select	NP_004311.1:p.Lys686AspfsTer10
NM_173201.4:c.2056_2057del	NP_775293.1:p.Lys686AspfsTer10
NM_001286075.2:c.1681_1682del	NP_001273004.1:p.Lys561AspfsTer10
NM_173201.5:c.2056_2057del	NP_775293.1:p.Lys686AspfsTer10