Canonical Allele Identifier: CA1142412710

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508687_45508688delinsAG , CM000663.2:g.45508687_45508688delinsAG	GRCh38
NC_000001.10:g.45974359_45974360delinsAG , CM000663.1:g.45974359_45974360delinsAG	GRCh37
NC_000001.9:g.45746946_45746947delinsAG	NCBI36
NG_013378.1:g.13504_13505delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-109_430-108delinsAG MANE Select	ENSP00000383840.4:n.430-109_430-108delinsAG
ENST00000401061.8:c.430-109_430-108delinsAG	ENSP00000383840.4:n.430-109_430-108delinsAG
ENST00000616135.1:c.259-109_259-108delinsAG	ENSP00000478859.1:n.259-109_259-108delinsAG
NM_015506.2:c.430-109_430-108delinsAG	NP_056321.2:n.430-109_430-108delinsAG
XM_005270724.3:c.235-109_235-108delinsAG	XP_005270781.1:n.235-109_235-108delinsAG
XM_011541204.1:c.259-109_259-108delinsAG	XP_011539506.1:n.259-109_259-108delinsAG
NM_001330540.1:c.259-109_259-108delinsAG	NP_001317469.1:n.259-109_259-108delinsAG
XM_005270724.5:c.235-109_235-108delinsAG	XP_005270781.1:n.235-109_235-108delinsAG
NM_015506.3:c.430-109_430-108delinsAG MANE Select	NP_056321.2:n.430-109_430-108delinsAG
NM_001330540.2:c.259-109_259-108delinsAG	NP_001317469.1:n.259-109_259-108delinsAG