Canonical Allele Identifier: CA312741

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508811_45508812del , CM000663.2:g.45508811_45508812del	GRCh38
NC_000001.10:g.45974483_45974484del , CM000663.1:g.45974483_45974484del	GRCh37
NC_000001.9:g.45747070_45747071del	NCBI36
NG_013378.1:g.13628_13629del

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.445_446del MANE Select	NP_056321.2:p.Cys149HisfsTer?
ENST00000401061.9:c.445_446del MANE Select	ENSP00000383840.4:p.Cys149HisfsTer?
NM_001330540.1:c.274_275del	NP_001317469.1:p.Cys92HisfsTer?
NM_001330540.2:c.274_275del	NP_001317469.1:p.Cys92HisfsTer?
NM_015506.2:c.445_446del	NP_056321.2:p.Cys149HisfsTer?
ENST00000401061.8:c.445_446del	ENSP00000383840.4:p.Cys149HisfsTer?
ENST00000616135.1:c.274_275del	ENSP00000478859.1:p.Cys92HisfsTer?
XM_005270724.3:c.250_251del	XP_005270781.1:p.Cys84HisfsTer?
XM_005270724.5:c.250_251del	XP_005270781.1:p.Cys84HisfsTer?
XM_011541204.1:c.274_275del	XP_011539506.1:p.Cys92HisfsTer?