Canonical Allele Identifier: CA2473780294

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500632_45500633delinsAG , CM000663.2:g.45500632_45500633delinsAG	GRCh38
NC_000001.10:g.45966304_45966305delinsAG , CM000663.1:g.45966304_45966305delinsAG	GRCh37
NC_000001.9:g.45738891_45738892delinsAG	NCBI36
NG_013378.1:g.5449_5450delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+219_81+220delinsAG MANE Select	ENSP00000383840.4:n.81+219_81+220delinsAG
ENST00000401061.8:c.81+219_81+220delinsAG	ENSP00000383840.4:n.81+219_81+220delinsAG
ENST00000616135.1:c.-91+219_-91+220delinsAG	ENSP00000478859.1:n.-91+219_-91+220delinsAG
NM_015506.2:c.81+219_81+220delinsAG	NP_056321.2:n.81+219_81+220delinsAG
XM_005270724.3:c.81+219_81+220delinsAG	XP_005270781.1:n.81+219_81+220delinsAG
XM_011541204.1:c.-142+219_-142+220delinsAG	XP_011539506.1:n.-142+219_-142+220delinsAG
NM_001330540.1:c.-142+219_-142+220delinsAG	NP_001317469.1:n.-142+219_-142+220delinsAG
XM_005270724.5:c.81+219_81+220delinsAG	XP_005270781.1:n.81+219_81+220delinsAG
NM_015506.3:c.81+219_81+220delinsAG MANE Select	NP_056321.2:n.81+219_81+220delinsAG
NM_001330540.2:c.-142+219_-142+220delinsAG	NP_001317469.1:n.-142+219_-142+220delinsAG