Canonical Allele Identifier: CA2648643123
Gene: ATP1A2 HGNC NCBI

Linked Data

gnomAD v4: 1-160130551-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130552del , CM000663.2:g.160130552del GRCh38
NC_000001.10:g.160100342del , CM000663.1:g.160100342del GRCh37
NC_000001.9:g.158366966del NCBI36
NG_008014.1:g.19795del , LRG_6:g.19795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1782del MANE Select ENSP00000354490.3:p.Ala595LeufsTer16
ENST00000361216.7:c.1782del ENSP00000354490.3:p.Ala595LeufsTer16
ENST00000392233.7:c.1782del ENSP00000376066.3:p.Ala595LeufsTer16
ENST00000447527.1:c.914del
ENST00000472488.5:n.1885del
NM_000702.3:c.1782del NP_000693.1:p.Ala595LeufsTer16
NM_000702.4:c.1782del MANE Select NP_000693.1:p.Ala595LeufsTer16
Search 100 bp 5'
Search 100 bp 3'