Canonical Allele Identifier: CA2473783423

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508382_45508384delinsAAT , CM000663.2:g.45508382_45508384delinsAAT	GRCh38
NC_000001.10:g.45974054_45974056delinsAAT , CM000663.1:g.45974054_45974056delinsAAT	GRCh37
NC_000001.9:g.45746641_45746643delinsAAT	NCBI36
NG_013378.1:g.13199_13201delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+18_429+20delinsAAT MANE Select	ENSP00000383840.4:n.429+18_429+20delinsAAT
ENST00000401061.8:c.429+18_429+20delinsAAT	ENSP00000383840.4:n.429+18_429+20delinsAAT
ENST00000616135.1:c.258+18_258+20delinsAAT	ENSP00000478859.1:n.258+18_258+20delinsAAT
NM_015506.2:c.429+18_429+20delinsAAT	NP_056321.2:n.429+18_429+20delinsAAT
XM_005270724.3:c.234+18_234+20delinsAAT	XP_005270781.1:n.234+18_234+20delinsAAT
XM_011541204.1:c.258+18_258+20delinsAAT	XP_011539506.1:n.258+18_258+20delinsAAT
NM_001330540.1:c.258+18_258+20delinsAAT	NP_001317469.1:n.258+18_258+20delinsAAT
XM_005270724.5:c.234+18_234+20delinsAAT	XP_005270781.1:n.234+18_234+20delinsAAT
NM_015506.3:c.429+18_429+20delinsAAT MANE Select	NP_056321.2:n.429+18_429+20delinsAAT
NM_001330540.2:c.258+18_258+20delinsAAT	NP_001317469.1:n.258+18_258+20delinsAAT