Canonical Allele Identifier: CA2645392730

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511037-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511039_45511040del , CM000663.2:g.45511039_45511040del	GRCh38
NC_000001.10:g.45976711_45976712del , CM000663.1:g.45976711_45976712del	GRCh37
NC_000001.9:g.45749298_45749299del	NCBI36
NG_013378.1:g.15856_15857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1824_*1825del (MMACHC) MANE Select	ENSP00000383840.4:n.*1824_*1825del
ENST00000424390.2:c.*290_*291del (PRDX1)	ENSP00000389047.2:n.*290_*291del
ENST00000447184.6:c.*290_*291del (PRDX1)	ENSP00000407034.2:n.*290_*291del
ENST00000676549.1:c.*290_*291del (PRDX1)	ENSP00000503140.1:n.*290_*291del
ENST00000262746.5:c.*290_*291del (PRDX1)	ENSP00000262746.1:n.*290_*291del
ENST00000401061.8:c.*1824_*1825del (MMACHC)	ENSP00000383840.4:n.*1824_*1825del
ENST00000616135.1:c.*643_*644del (MMACHC)	ENSP00000478859.1:n.*643_*644del
NM_001202431.1:c.*290_*291del (PRDX1)	NP_001189360.1:n.*290_*291del
NM_002574.3:c.*290_*291del (PRDX1)	NP_002565.1:n.*290_*291del
NM_015506.2:c.*1824_*1825del (MMACHC)	NP_056321.2:n.*1824_*1825del
NM_181696.2:c.*290_*291del (PRDX1)	NP_859047.1:n.*290_*291del
NM_181697.2:c.*290_*291del (PRDX1)	NP_859048.1:n.*290_*291del
NM_001330540.1:c.*1824_*1825del (MMACHC)	NP_001317469.1:n.*1824_*1825del
XM_005270724.5:c.*1824_*1825del (MMACHC)	XP_005270781.1:n.*1824_*1825del
NM_015506.3:c.*1824_*1825del (MMACHC) MANE Select	NP_056321.2:n.*1824_*1825del
NM_001330540.2:c.*1824_*1825del (MMACHC)	NP_001317469.1:n.*1824_*1825del