Canonical Allele Identifier: CA2473783311

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508132_45508136delinsAAAAC , CM000663.2:g.45508132_45508136delinsAAAAC	GRCh38
NC_000001.10:g.45973804_45973808delinsAAAAC , CM000663.1:g.45973804_45973808delinsAAAAC	GRCh37
NC_000001.9:g.45746391_45746395delinsAAAAC	NCBI36
NG_013378.1:g.12949_12953delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-80_277-76delinsAAAAC MANE Select	ENSP00000383840.4:n.277-80_277-76delinsAAAAC
ENST00000401061.8:c.277-80_277-76delinsAAAAC	ENSP00000383840.4:n.277-80_277-76delinsAAAAC
ENST00000616135.1:c.106-80_106-76delinsAAAAC	ENSP00000478859.1:n.106-80_106-76delinsAAAAC
NM_015506.2:c.277-80_277-76delinsAAAAC	NP_056321.2:n.277-80_277-76delinsAAAAC
XM_005270724.3:c.82-80_82-76delinsAAAAC	XP_005270781.1:n.82-80_82-76delinsAAAAC
XM_011541204.1:c.106-80_106-76delinsAAAAC	XP_011539506.1:n.106-80_106-76delinsAAAAC
NM_001330540.1:c.106-80_106-76delinsAAAAC	NP_001317469.1:n.106-80_106-76delinsAAAAC
XM_005270724.5:c.82-80_82-76delinsAAAAC	XP_005270781.1:n.82-80_82-76delinsAAAAC
NM_015506.3:c.277-80_277-76delinsAAAAC MANE Select	NP_056321.2:n.277-80_277-76delinsAAAAC
NM_001330540.2:c.106-80_106-76delinsAAAAC	NP_001317469.1:n.106-80_106-76delinsAAAAC