Canonical Allele Identifier: CA2661422187

Gene: MMADHC

Linked Data

• gnomAD v4: 2-149570168-A-ATGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570168_149570169insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG , CM000664.2:g.149570168_149570169insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG	GRCh38
NC_000002.11:g.150426682_150426683insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG , CM000664.1:g.150426682_150426683insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG	GRCh37
NC_000002.10:g.150134928_150134929insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG	NCBI36
NG_009189.1:g.22648_22649insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA MANE Select	ENSP00000301920.5:n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGAC...
ENST00000303319.9:c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA	ENSP00000301920.5:n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGAC...
ENST00000422782.2:c.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA	ENSP00000408331.2:n.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGAC...
ENST00000428879.5:c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA	ENSP00000389060.1:n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGAC...
NM_015702.2:c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA	NP_056517.1:n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCA...
NM_015702.3:c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA MANE Select	NP_056517.1:n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCA...