Canonical Allele Identifier: CA1206216987
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731919_169731920delinsTG , CM000663.2:g.169731919_169731920delinsTG GRCh38
NC_000001.10:g.169701060_169701061delinsTG , CM000663.1:g.169701060_169701061delinsTG GRCh37
NC_000001.9:g.167967684_167967685delinsTG NCBI36
NG_012124.1:g.7160_7161delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.444_445delinsCA (SELE) MANE Select ENSP00000331736.7:p.Cys148=
ENST00000333360.11:c.444_445delinsCA (SELE) ENSP00000331736.7:p.Cys148=
ENST00000367774.1:c.444_445delinsCA (SELE) ENSP00000356748.1:p.Cys148=
ENST00000367775.5:c.444_445delinsCA (SELE) ENSP00000356749.1:p.Cys148=
ENST00000367776.5:c.444_445delinsCA (SELE) ENSP00000356750.1:p.Cys148=
ENST00000367777.5:c.444_445delinsCA (SELE) ENSP00000356751.1:p.Cys148=
ENST00000461085.1:n.127_128delinsCA (SELE)
ENST00000498289.5:n.851+47987_851+47988delinsTG (FIRRM)
NM_000450.2:c.444_445delinsCA (SELE) MANE Select NP_000441.2:p.Cys148=
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