Canonical Allele Identifier: CA2473784825

Gene: MMACHC PRDX1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510955_45510958delinsTCTC , CM000663.2:g.45510955_45510958delinsTCTC	GRCh38
NC_000001.10:g.45976627_45976630delinsTCTC , CM000663.1:g.45976627_45976630delinsTCTC	GRCh37
NC_000001.9:g.45749214_45749217delinsTCTC	NCBI36
NG_013378.1:g.15772_15775delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1740_*1743delinsTCTC (MMACHC) MANE Select	ENSP00000383840.4:n.*1740_*1743delinsTCTC
ENST00000424390.2:c.*371_*374delinsGAGA (PRDX1)	ENSP00000389047.2:n.*371_*374delinsGAGA
ENST00000447184.6:c.*371_*374delinsGAGA (PRDX1)	ENSP00000407034.2:n.*371_*374delinsGAGA
ENST00000676549.1:c.*371_*374delinsGAGA (PRDX1)	ENSP00000503140.1:n.*371_*374delinsGAGA
ENST00000401061.8:c.*1740_*1743delinsTCTC (MMACHC)	ENSP00000383840.4:n.*1740_*1743delinsTCTC
ENST00000616135.1:c.*559_*562delinsTCTC (MMACHC)	ENSP00000478859.1:n.*559_*562delinsTCTC
NM_015506.2:c.*1740_*1743delinsTCTC (MMACHC)	NP_056321.2:n.*1740_*1743delinsTCTC
NM_001330540.1:c.*1740_*1743delinsTCTC (MMACHC)	NP_001317469.1:n.*1740_*1743delinsTCTC
XM_005270724.5:c.*1740_*1743delinsTCTC (MMACHC)	XP_005270781.1:n.*1740_*1743delinsTCTC
NM_015506.3:c.*1740_*1743delinsTCTC (MMACHC) MANE Select	NP_056321.2:n.*1740_*1743delinsTCTC
NM_001330540.2:c.*1740_*1743delinsTCTC (MMACHC)	NP_001317469.1:n.*1740_*1743delinsTCTC