Canonical Allele Identifier: CA32487662

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs111545902
• gnomAD v3: 1-169737068-GA-G
• gnomAD v4: 1-169737068-GA-G
• MyVariant Identifiers: chr1:g.169706210del (hg19) ; chr1:g.169737069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169737074del , CM000663.2:g.169737074del	GRCh38
NC_000001.10:g.169706215del , CM000663.1:g.169706215del	GRCh37
NC_000001.9:g.167972839del	NCBI36
NG_012124.1:g.2011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46737del (FIRRM)
ENST00000609271.1:c.-201-2946del (SELE)	ENSP00000476784.1:n.-201-2946del