Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA547445059

Gene: MLF1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1381032890

gnomAD v2: 3-158280045-GTC-G

gnomAD v3: 3-158562256-GTC-G

gnomAD v4: 3-158562256-GTC-G

MyVariant Identifiers: chr3:g.158280046_158280047del (hg19) chr3:g.158562257_158562258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158562259_158562260del , CM000665.2:g.158562259_158562260del	GRCh38
NC_000003.11:g.158280048_158280049del , CM000665.1:g.158280048_158280049del	GRCh37
NC_000003.10:g.159762742_159762743del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_104147.1:n.994-753_994-752del

Search 100 bp 5'

Search 100 bp 3'