Canonical Allele Identifier: CA2473783710

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508924_45508936delinsAGCTGACCGTATC , CM000663.2:g.45508924_45508936delinsAGCTGACCGTATC	GRCh38
NC_000001.10:g.45974596_45974608delinsAGCTGACCGTATC , CM000663.1:g.45974596_45974608delinsAGCTGACCGTATC	GRCh37
NC_000001.9:g.45747183_45747195delinsAGCTGACCGTATC	NCBI36
NG_013378.1:g.13741_13753delinsAGCTGACCGTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.558_570delinsAGCTGACCGTATC MANE Select	ENSP00000383840.4:p.Arg186=
ENST00000401061.8:c.558_570delinsAGCTGACCGTATC	ENSP00000383840.4:p.Arg186=
ENST00000616135.1:c.387_399delinsAGCTGACCGTATC	ENSP00000478859.1:p.Arg129=
NM_015506.2:c.558_570delinsAGCTGACCGTATC	NP_056321.2:p.Arg186=
XM_005270724.3:c.363_375delinsAGCTGACCGTATC	XP_005270781.1:p.Arg121=
XM_011541204.1:c.387_399delinsAGCTGACCGTATC	XP_011539506.1:p.Arg129=
NM_001330540.1:c.387_399delinsAGCTGACCGTATC	NP_001317469.1:p.Arg129=
XM_005270724.5:c.363_375delinsAGCTGACCGTATC	XP_005270781.1:p.Arg121=
NM_015506.3:c.558_570delinsAGCTGACCGTATC MANE Select	NP_056321.2:p.Arg186=
NM_001330540.2:c.387_399delinsAGCTGACCGTATC	NP_001317469.1:p.Arg129=