Canonical Allele Identifier: CA526739827

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs1558015541
• gnomAD v2: 1-169701106-TGAG-T
• gnomAD v4: 1-169731965-TGAG-T
• MyVariant Identifiers: chr1:g.169701107_169701109del (hg19) ; chr1:g.169731966_169731968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731971_169731973del , CM000663.2:g.169731971_169731973del	GRCh38
NC_000001.10:g.169701112_169701114del , CM000663.1:g.169701112_169701114del	GRCh37
NC_000001.9:g.167967736_167967738del	NCBI36
NG_012124.1:g.7112_7114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.422-26_422-24del (SELE) MANE Select	ENSP00000331736.7:n.422-26_422-24del
ENST00000333360.11:c.422-26_422-24del (SELE)	ENSP00000331736.7:n.422-26_422-24del
ENST00000367774.1:c.422-26_422-24del (SELE)	ENSP00000356748.1:n.422-26_422-24del
ENST00000367775.5:c.422-26_422-24del (SELE)	ENSP00000356749.1:n.422-26_422-24del
ENST00000367776.5:c.422-26_422-24del (SELE)	ENSP00000356750.1:n.422-26_422-24del
ENST00000367777.5:c.422-26_422-24del (SELE)	ENSP00000356751.1:n.422-26_422-24del
ENST00000461085.1:n.105-26_105-24del (SELE)
ENST00000498289.5:n.851+48039_851+48041del (FIRRM)
NM_000450.2:c.422-26_422-24del (SELE) MANE Select	NP_000441.2:n.422-26_422-24del