Canonical Allele Identifier: CA526740146
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1374885223
gnomAD v2: 1-169706106-TG-T
gnomAD v3: 1-169736965-TG-T
gnomAD v4: 1-169736965-TG-T
MyVariant Identifiers: chr1:g.169706107del (hg19) chr1:g.169736966del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736970del , CM000663.2:g.169736970del GRCh38
NC_000001.10:g.169706111del , CM000663.1:g.169706111del GRCh37
NC_000001.9:g.167972735del NCBI36
NG_012124.1:g.2114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46841del (FIRRM)
ENST00000609271.1:c.-201-2843del (SELE) ENSP00000476784.1:n.-201-2843del
Search 100 bp 5'
Search 100 bp 3'