Canonical Allele Identifier: CA348868794
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1553453421
gnomAD v4: 2-149570009-C-CTGG
MyVariant Identifiers: chr2:g.150426523_150426524insTGG (hg19) chr2:g.149570009_149570010insTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570012_149570014dup , CM000664.2:g.149570012_149570014dup GRCh38
NC_000002.11:g.150426526_150426528dup , CM000664.1:g.150426526_150426528dup GRCh37
NC_000002.10:g.150134772_150134774dup NCBI36
NG_009189.1:g.22805_22807dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.853_855dup MANE Select ENSP00000301920.5:p.Pro285_Asp286insPro
ENST00000303319.9:c.853_855dup ENSP00000301920.5:p.Pro285_Asp286insPro
ENST00000422782.2:c.955_957dup ENSP00000408331.2:p.Pro319_Asp320insPro
ENST00000428879.5:c.853_855dup ENSP00000389060.1:p.Pro285_Asp286insPro
NM_015702.2:c.853_855dup NP_056517.1:p.Pro285_Asp286insPro
NM_015702.3:c.853_855dup MANE Select NP_056517.1:p.Pro285_Asp286insPro
Search 100 bp 5'
Search 100 bp 3'