Canonical Allele Identifier: CA32483006

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs757345421
• gnomAD v4: 1-169731999-CT-C
• MyVariant Identifiers: chr1:g.169701141del (hg19) ; chr1:g.169732000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169732002del , CM000663.2:g.169732002del	GRCh38
NC_000001.10:g.169701143del , CM000663.1:g.169701143del	GRCh37
NC_000001.9:g.167967767del	NCBI36
NG_012124.1:g.7080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.422-58del (SELE) MANE Select	ENSP00000331736.7:n.422-58del
ENST00000333360.11:c.422-58del (SELE)	ENSP00000331736.7:n.422-58del
ENST00000367774.1:c.422-58del (SELE)	ENSP00000356748.1:n.422-58del
ENST00000367775.5:c.422-58del (SELE)	ENSP00000356749.1:n.422-58del
ENST00000367776.5:c.422-58del (SELE)	ENSP00000356750.1:n.422-58del
ENST00000367777.5:c.422-58del (SELE)	ENSP00000356751.1:n.422-58del
ENST00000461085.1:n.105-58del (SELE)
ENST00000498289.5:n.851+48070del (FIRRM)
NM_000450.2:c.422-58del (SELE) MANE Select	NP_000441.2:n.422-58del