Canonical Allele Identifier: CA2473783317

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508139_45508140delinsAC , CM000663.2:g.45508139_45508140delinsAC	GRCh38
NC_000001.10:g.45973811_45973812delinsAC , CM000663.1:g.45973811_45973812delinsAC	GRCh37
NC_000001.9:g.45746398_45746399delinsAC	NCBI36
NG_013378.1:g.12956_12957delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-73_277-72delinsAC MANE Select	ENSP00000383840.4:n.277-73_277-72delinsAC
ENST00000401061.8:c.277-73_277-72delinsAC	ENSP00000383840.4:n.277-73_277-72delinsAC
ENST00000616135.1:c.106-73_106-72delinsAC	ENSP00000478859.1:n.106-73_106-72delinsAC
NM_015506.2:c.277-73_277-72delinsAC	NP_056321.2:n.277-73_277-72delinsAC
XM_005270724.3:c.82-73_82-72delinsAC	XP_005270781.1:n.82-73_82-72delinsAC
XM_011541204.1:c.106-73_106-72delinsAC	XP_011539506.1:n.106-73_106-72delinsAC
NM_001330540.1:c.106-73_106-72delinsAC	NP_001317469.1:n.106-73_106-72delinsAC
XM_005270724.5:c.82-73_82-72delinsAC	XP_005270781.1:n.82-73_82-72delinsAC
NM_015506.3:c.277-73_277-72delinsAC MANE Select	NP_056321.2:n.277-73_277-72delinsAC
NM_001330540.2:c.106-73_106-72delinsAC	NP_001317469.1:n.106-73_106-72delinsAC