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: CA758741406

Gene: MMADHC-DT HGNC NCBI
LINC01931 HGNC NCBI

Linked Data

dbSNP Id: rs1234400780

gnomAD v3: 2-149798786-GAAAT-G

gnomAD v4: 2-149798786-GAAAT-G

MyVariant Identifiers: chr2:g.150655301_150655304del (hg19) chr2:g.149798787_149798790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149798791_149798794del , CM000664.2:g.149798791_149798794del	GRCh38
NC_000002.11:g.150655305_150655308del , CM000664.1:g.150655305_150655308del	GRCh37
NC_000002.10:g.150363551_150363554del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110240.1:n.536-49118_536-49115del (MMADHC-DT)
NR_145421.1:n.1341+5392_1341+5395del (LINC01931)

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