Canonical Allele Identifier: CA2661422158
Gene: MMADHC HGNC NCBI

Linked Data

gnomAD v4: 2-149569911-AGT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569914_149569915del , CM000664.2:g.149569914_149569915del GRCh38
NC_000002.11:g.150426428_150426429del , CM000664.1:g.150426428_150426429del GRCh37
NC_000002.10:g.150134674_150134675del NCBI36
NG_009189.1:g.22904_22905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*61_*62del MANE Select ENSP00000301920.5:n.*61_*62del
ENST00000303319.9:c.*61_*62del ENSP00000301920.5:n.*61_*62del
ENST00000422782.2:c.*61_*62del ENSP00000408331.2:n.*61_*62del
ENST00000428879.5:c.*61_*62del ENSP00000389060.1:n.*61_*62del
NM_015702.2:c.*61_*62del NP_056517.1:n.*61_*62del
NM_015702.3:c.*61_*62del MANE Select NP_056517.1:n.*61_*62del
Search 100 bp 5'
Search 100 bp 3'