Canonical Allele Identifier: CA1206216839

Gene: SELE FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731535_169731537delinsCTG , CM000663.2:g.169731535_169731537delinsCTG	GRCh38
NC_000001.10:g.169700676_169700678delinsCTG , CM000663.1:g.169700676_169700678delinsCTG	GRCh37
NC_000001.9:g.167967300_167967302delinsCTG	NCBI36
NG_012124.1:g.7543_7545delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+298_529+300delinsCAG (SELE) MANE Select	ENSP00000331736.7:n.529+298_529+300delinsCAG
ENST00000333360.11:c.529+298_529+300delinsCAG (SELE)	ENSP00000331736.7:n.529+298_529+300delinsCAG
ENST00000367774.1:c.529+298_529+300delinsCAG (SELE)	ENSP00000356748.1:n.529+298_529+300delinsCAG
ENST00000367775.5:c.529+298_529+300delinsCAG (SELE)	ENSP00000356749.1:n.529+298_529+300delinsCAG
ENST00000367776.5:c.529+298_529+300delinsCAG (SELE)	ENSP00000356750.1:n.529+298_529+300delinsCAG
ENST00000367777.5:c.529+298_529+300delinsCAG (SELE)	ENSP00000356751.1:n.529+298_529+300delinsCAG
ENST00000461085.1:n.510_512delinsCAG (SELE)
ENST00000498289.5:n.851+47603_851+47605delinsCTG (FIRRM)
NM_000450.2:c.529+298_529+300delinsCAG (SELE) MANE Select	NP_000441.2:n.529+298_529+300delinsCAG