Canonical Allele Identifier: CA2473784814

Gene: MMACHC PRDX1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510934_45510944delinsATTCCCTGATT , CM000663.2:g.45510934_45510944delinsATTCCCTGATT	GRCh38
NC_000001.10:g.45976606_45976616delinsATTCCCTGATT , CM000663.1:g.45976606_45976616delinsATTCCCTGATT	GRCh37
NC_000001.9:g.45749193_45749203delinsATTCCCTGATT	NCBI36
NG_013378.1:g.15751_15761delinsATTCCCTGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1719_*1729delinsATTCCCTGATT (MMACHC) MANE Select	ENSP00000383840.4:n.*1719_*1729delinsATTCCCTGATT
ENST00000424390.2:c.*385_*395delinsAATCAGGGAAT (PRDX1)	ENSP00000389047.2:n.*385_*395delinsAATCAGGGAAT
ENST00000447184.6:c.*385_*395delinsAATCAGGGAAT (PRDX1)	ENSP00000407034.2:n.*385_*395delinsAATCAGGGAAT
ENST00000676549.1:c.*385_*395delinsAATCAGGGAAT (PRDX1)	ENSP00000503140.1:n.*385_*395delinsAATCAGGGAAT
ENST00000401061.8:c.*1719_*1729delinsATTCCCTGATT (MMACHC)	ENSP00000383840.4:n.*1719_*1729delinsATTCCCTGATT
ENST00000616135.1:c.*538_*548delinsATTCCCTGATT (MMACHC)	ENSP00000478859.1:n.*538_*548delinsATTCCCTGATT
NM_015506.2:c.*1719_*1729delinsATTCCCTGATT (MMACHC)	NP_056321.2:n.*1719_*1729delinsATTCCCTGATT
NM_001330540.1:c.*1719_*1729delinsATTCCCTGATT (MMACHC)	NP_001317469.1:n.*1719_*1729delinsATTCCCTGATT
XM_005270724.5:c.*1719_*1729delinsATTCCCTGATT (MMACHC)	XP_005270781.1:n.*1719_*1729delinsATTCCCTGATT
NM_015506.3:c.*1719_*1729delinsATTCCCTGATT (MMACHC) MANE Select	NP_056321.2:n.*1719_*1729delinsATTCCCTGATT
NM_001330540.2:c.*1719_*1729delinsATTCCCTGATT (MMACHC)	NP_001317469.1:n.*1719_*1729delinsATTCCCTGATT