Canonical Allele Identifier: CA2649046493

Gene: SELE FIRRM

Linked Data

• gnomAD v4: 1-169731623-TTAAACTATCTTGTCAAGGTGCCAAAATAAATAACTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731624_169731659del , CM000663.2:g.169731624_169731659del	GRCh38
NC_000001.10:g.169700765_169700800del , CM000663.1:g.169700765_169700800del	GRCh37
NC_000001.9:g.167967389_167967424del	NCBI36
NG_012124.1:g.7421_7456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+176_529+211del (SELE) MANE Select	ENSP00000331736.7:n.529+176_529+211del
ENST00000333360.11:c.529+176_529+211del (SELE)	ENSP00000331736.7:n.529+176_529+211del
ENST00000367774.1:c.529+176_529+211del (SELE)	ENSP00000356748.1:n.529+176_529+211del
ENST00000367775.5:c.529+176_529+211del (SELE)	ENSP00000356749.1:n.529+176_529+211del
ENST00000367776.5:c.529+176_529+211del (SELE)	ENSP00000356750.1:n.529+176_529+211del
ENST00000367777.5:c.529+176_529+211del (SELE)	ENSP00000356751.1:n.529+176_529+211del
ENST00000461085.1:n.388_423del (SELE)
ENST00000498289.5:n.851+47692_851+47727del (FIRRM)
NM_000450.2:c.529+176_529+211del (SELE) MANE Select	NP_000441.2:n.529+176_529+211del