Canonical Allele Identifier: CA646308958

Gene: MMACHC

Linked Data

• COSMIC: COSN21402043 ; COSN24279915

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500266_45500267insG , CM000663.2:g.45500266_45500267insG	GRCh38
NC_000001.10:g.45965938_45965939insG , CM000663.1:g.45965938_45965939insG	GRCh37
NC_000001.9:g.45738525_45738526insG	NCBI36
NG_013378.1:g.5083_5084insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.8:c.-67_-66insG	ENSP00000383840.4:n.-67_-66insG
NM_015506.2:c.-67_-66insG	NP_056321.2:n.-67_-66insG
NM_001330540.1:c.-289_-288insG	NP_001317469.1:n.-289_-288insG
XM_005270724.5:c.-67_-66insG	XP_005270781.1:n.-67_-66insG