Canonical Allele Identifier: CA58332327
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1037225939
gnomAD v2: 2-150426167-GATTT-G
gnomAD v3: 2-149569653-GATTT-G
gnomAD v4: 2-149569653-GATTT-G
MyVariant Identifiers: chr2:g.150426168_150426171del (hg19) chr2:g.149569654_149569657del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569658_149569661del , CM000664.2:g.149569658_149569661del GRCh38
NC_000002.11:g.150426172_150426175del , CM000664.1:g.150426172_150426175del GRCh37
NC_000002.10:g.150134418_150134421del NCBI36
NG_009189.1:g.23160_23163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*317_*320del MANE Select ENSP00000301920.5:n.*317_*320del
ENST00000303319.9:c.*317_*320del ENSP00000301920.5:n.*317_*320del
ENST00000428879.5:c.*317_*320del ENSP00000389060.1:n.*317_*320del
NM_015702.2:c.*317_*320del NP_056517.1:n.*317_*320del
NM_015702.3:c.*317_*320del MANE Select NP_056517.1:n.*317_*320del
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