Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA758720457

Gene: MMADHC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1276565073

gnomAD v3: 2-149600994-A-AT

gnomAD v4: 2-149600994-A-AT

MyVariant Identifiers: chr2:g.150457508_150457509insT (hg19) chr2:g.149600994_149600995insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149600996dup , CM000664.2:g.149600996dup	GRCh38
NC_000002.11:g.150457510dup , CM000664.1:g.150457510dup	GRCh37
NC_000002.10:g.150165756dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110240.1:n.493+13146dup

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