Canonical Allele Identifier: CA1236365
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

dbSNP Id: rs765349957
ExAC: 1:169701060 TG / T
gnomAD v2: 1-169701060-TG-T
gnomAD v3: 1-169731919-TG-T
gnomAD v4: 1-169731919-TG-T
MyVariant Identifiers: chr1:g.169701061del (hg19) chr1:g.169731920del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731920del , CM000663.2:g.169731920del GRCh38
NC_000001.10:g.169701061del , CM000663.1:g.169701061del GRCh37
NC_000001.9:g.167967685del NCBI36
NG_012124.1:g.7160del

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.444del (SELE) MANE Select ENSP00000331736.7:p.Cys148Ter
ENST00000333360.11:c.444del (SELE) ENSP00000331736.7:p.Cys148Ter
ENST00000367774.1:c.444del (SELE) ENSP00000356748.1:p.Cys148Ter
ENST00000367775.5:c.444del (SELE) ENSP00000356749.1:p.Cys148Ter
ENST00000367776.5:c.444del (SELE) ENSP00000356750.1:p.Cys148Ter
ENST00000367777.5:c.444del (SELE) ENSP00000356751.1:p.Cys148Ter
ENST00000461085.1:n.127del (SELE)
ENST00000498289.5:n.851+47988del (FIRRM)
NM_000450.2:c.444del (SELE) MANE Select NP_000441.2:p.Cys148Ter
Search 100 bp 5'
Search 100 bp 3'