Canonical Allele Identifier: CA224216
Gene: ATP2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96543
dbSNP Id: rs398124555

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28903059dup , CM000678.2:g.28903059dup GRCh38
NC_000016.9:g.28914380dup , CM000678.1:g.28914380dup GRCh37
NC_000016.8:g.28821881dup NCBI36
NG_023327.1:g.29572dup

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2774dup MANE Select ENSP00000378879.5:p.Met925IlefsTer27
ENST00000357084.7:c.2774dup ENSP00000349595.3:p.Met925IlefsTer27
ENST00000395503.8:c.2774dup ENSP00000378879.4:p.Met925IlefsTer27
ENST00000536376.5:c.2399dup ENSP00000443101.1:p.Met800IlefsTer27
NM_001286075.1:c.2399dup NP_001273004.1:p.Met800IlefsTer27
NM_004320.4:c.2774dup NP_004311.1:p.Met925IlefsTer27
NM_173201.3:c.2774dup NP_775293.1:p.Met925IlefsTer27
NM_004320.6:c.2774dup MANE Select NP_004311.1:p.Met925IlefsTer27
NM_173201.4:c.2774dup NP_775293.1:p.Met925IlefsTer27
NM_001286075.2:c.2399dup NP_001273004.1:p.Met800IlefsTer27
NM_173201.5:c.2774dup NP_775293.1:p.Met925IlefsTer27