Canonical Allele Identifier: CA224215
Gene: ATP2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96542
dbSNP Id: rs398124554

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902650del , CM000678.2:g.28902650del GRCh38
NC_000016.9:g.28913971del , CM000678.1:g.28913971del GRCh37
NC_000016.8:g.28821472del NCBI36
NG_023327.1:g.29163del

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2595del MANE Select ENSP00000378879.5:p.Asn866ThrfsTer5
ENST00000357084.7:c.2595del ENSP00000349595.3:p.Asn866ThrfsTer5
ENST00000395503.8:c.2595del ENSP00000378879.4:p.Asn866ThrfsTer5
ENST00000536376.5:c.2220del ENSP00000443101.1:p.Asn741ThrfsTer5
NM_001286075.1:c.2220del NP_001273004.1:p.Asn741ThrfsTer5
NM_004320.4:c.2595del NP_004311.1:p.Asn866ThrfsTer5
NM_173201.3:c.2595del NP_775293.1:p.Asn866ThrfsTer5
NM_004320.6:c.2595del MANE Select NP_004311.1:p.Asn866ThrfsTer5
NM_173201.4:c.2595del NP_775293.1:p.Asn866ThrfsTer5
NM_001286075.2:c.2220del NP_001273004.1:p.Asn741ThrfsTer5
NM_173201.5:c.2595del NP_775293.1:p.Asn866ThrfsTer5