Canonical Allele Identifier: CA2473780326

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500723_45500724delinsGC , CM000663.2:g.45500723_45500724delinsGC	GRCh38
NC_000001.10:g.45966395_45966396delinsGC , CM000663.1:g.45966395_45966396delinsGC	GRCh37
NC_000001.9:g.45738982_45738983delinsGC	NCBI36
NG_013378.1:g.5540_5541delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+310_81+311delinsGC MANE Select	ENSP00000383840.4:n.81+310_81+311delinsGC
ENST00000401061.8:c.81+310_81+311delinsGC	ENSP00000383840.4:n.81+310_81+311delinsGC
ENST00000616135.1:c.-91+310_-91+311delinsGC	ENSP00000478859.1:n.-91+310_-91+311delinsGC
NM_015506.2:c.81+310_81+311delinsGC	NP_056321.2:n.81+310_81+311delinsGC
XM_005270724.3:c.81+310_81+311delinsGC	XP_005270781.1:n.81+310_81+311delinsGC
XM_011541204.1:c.-142+310_-142+311delinsGC	XP_011539506.1:n.-142+310_-142+311delinsGC
NM_001330540.1:c.-142+310_-142+311delinsGC	NP_001317469.1:n.-142+310_-142+311delinsGC
XM_005270724.5:c.81+310_81+311delinsGC	XP_005270781.1:n.81+310_81+311delinsGC
NM_015506.3:c.81+310_81+311delinsGC MANE Select	NP_056321.2:n.81+310_81+311delinsGC
NM_001330540.2:c.-142+310_-142+311delinsGC	NP_001317469.1:n.-142+310_-142+311delinsGC