Canonical Allele Identifier: CA2649046672

Gene: SELE FIRRM

Linked Data

• gnomAD v4: 1-169731817-GGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731818_169731820del , CM000663.2:g.169731818_169731820del	GRCh38
NC_000001.10:g.169700959_169700961del , CM000663.1:g.169700959_169700961del	GRCh37
NC_000001.9:g.167967583_167967585del	NCBI36
NG_012124.1:g.7260_7262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+15_529+17del (SELE) MANE Select	ENSP00000331736.7:n.529+15_529+17del
ENST00000333360.11:c.529+15_529+17del (SELE)	ENSP00000331736.7:n.529+15_529+17del
ENST00000367774.1:c.529+15_529+17del (SELE)	ENSP00000356748.1:n.529+15_529+17del
ENST00000367775.5:c.529+15_529+17del (SELE)	ENSP00000356749.1:n.529+15_529+17del
ENST00000367776.5:c.529+15_529+17del (SELE)	ENSP00000356750.1:n.529+15_529+17del
ENST00000367777.5:c.529+15_529+17del (SELE)	ENSP00000356751.1:n.529+15_529+17del
ENST00000461085.1:n.227_229del (SELE)
ENST00000498289.5:n.851+47886_851+47888del (FIRRM)
NM_000450.2:c.529+15_529+17del (SELE) MANE Select	NP_000441.2:n.529+15_529+17del