Canonical Allele Identifier: CA1144679905

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508652_45508654delinsAAA , CM000663.2:g.45508652_45508654delinsAAA	GRCh38
NC_000001.10:g.45974324_45974326delinsAAA , CM000663.1:g.45974324_45974326delinsAAA	GRCh37
NC_000001.9:g.45746911_45746913delinsAAA	NCBI36
NG_013378.1:g.13469_13471delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-144_430-142delinsAAA MANE Select	ENSP00000383840.4:n.430-144_430-142delinsAAA
ENST00000401061.8:c.430-144_430-142delinsAAA	ENSP00000383840.4:n.430-144_430-142delinsAAA
ENST00000616135.1:c.259-144_259-142delinsAAA	ENSP00000478859.1:n.259-144_259-142delinsAAA
NM_015506.2:c.430-144_430-142delinsAAA	NP_056321.2:n.430-144_430-142delinsAAA
XM_005270724.3:c.235-144_235-142delinsAAA	XP_005270781.1:n.235-144_235-142delinsAAA
XM_011541204.1:c.259-144_259-142delinsAAA	XP_011539506.1:n.259-144_259-142delinsAAA
NM_001330540.1:c.259-144_259-142delinsAAA	NP_001317469.1:n.259-144_259-142delinsAAA
XM_005270724.5:c.235-144_235-142delinsAAA	XP_005270781.1:n.235-144_235-142delinsAAA
NM_015506.3:c.430-144_430-142delinsAAA MANE Select	NP_056321.2:n.430-144_430-142delinsAAA
NM_001330540.2:c.259-144_259-142delinsAAA	NP_001317469.1:n.259-144_259-142delinsAAA