Canonical Allele Identifier: CA2661422203
Gene: MMADHC HGNC NCBI

Linked Data

gnomAD v4: 2-149570223-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570228del , CM000664.2:g.149570228del GRCh38
NC_000002.11:g.150426742del , CM000664.1:g.150426742del GRCh37
NC_000002.10:g.150134988del NCBI36
NG_009189.1:g.22593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-56del MANE Select ENSP00000301920.5:n.697-56del
ENST00000303319.9:c.697-56del ENSP00000301920.5:n.697-56del
ENST00000422782.2:c.799-56del ENSP00000408331.2:n.799-56del
ENST00000428879.5:c.697-56del ENSP00000389060.1:n.697-56del
NM_015702.2:c.697-56del NP_056517.1:n.697-56del
NM_015702.3:c.697-56del MANE Select NP_056517.1:n.697-56del
Search 100 bp 5'
Search 100 bp 3'