Canonical Allele Identifier: CA2648642077
Gene: ATP1A2 HGNC NCBI

Linked Data

gnomAD v4: 1-160127559-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127560del , CM000663.2:g.160127560del GRCh38
NC_000001.10:g.160097350del , CM000663.1:g.160097350del GRCh37
NC_000001.9:g.158363974del NCBI36
NG_008014.1:g.16803del , LRG_6:g.16803del

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.757del MANE Select ENSP00000354490.3:p.Arg253GlyfsTer4
ENST00000361216.7:c.757del ENSP00000354490.3:p.Arg253GlyfsTer4
ENST00000392233.7:c.757del ENSP00000376066.3:p.Arg253GlyfsTer4
ENST00000472488.5:n.860del
NM_000702.3:c.757del NP_000693.1:p.Arg253GlyfsTer4
NM_000702.4:c.757del MANE Select NP_000693.1:p.Arg253GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'