Canonical Allele Identifier: CA2473783571

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508641_45508643delinsAAT , CM000663.2:g.45508641_45508643delinsAAT	GRCh38
NC_000001.10:g.45974313_45974315delinsAAT , CM000663.1:g.45974313_45974315delinsAAT	GRCh37
NC_000001.9:g.45746900_45746902delinsAAT	NCBI36
NG_013378.1:g.13458_13460delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-155_430-153delinsAAT MANE Select	ENSP00000383840.4:n.430-155_430-153delinsAAT
ENST00000401061.8:c.430-155_430-153delinsAAT	ENSP00000383840.4:n.430-155_430-153delinsAAT
ENST00000616135.1:c.259-155_259-153delinsAAT	ENSP00000478859.1:n.259-155_259-153delinsAAT
NM_015506.2:c.430-155_430-153delinsAAT	NP_056321.2:n.430-155_430-153delinsAAT
XM_005270724.3:c.235-155_235-153delinsAAT	XP_005270781.1:n.235-155_235-153delinsAAT
XM_011541204.1:c.259-155_259-153delinsAAT	XP_011539506.1:n.259-155_259-153delinsAAT
NM_001330540.1:c.259-155_259-153delinsAAT	NP_001317469.1:n.259-155_259-153delinsAAT
XM_005270724.5:c.235-155_235-153delinsAAT	XP_005270781.1:n.235-155_235-153delinsAAT
NM_015506.3:c.430-155_430-153delinsAAT MANE Select	NP_056321.2:n.430-155_430-153delinsAAT
NM_001330540.2:c.259-155_259-153delinsAAT	NP_001317469.1:n.259-155_259-153delinsAAT