Canonical Allele Identifier: CA2473784839

Gene: MMACHC PRDX1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510988_45510989delinsGA , CM000663.2:g.45510988_45510989delinsGA	GRCh38
NC_000001.10:g.45976660_45976661delinsGA , CM000663.1:g.45976660_45976661delinsGA	GRCh37
NC_000001.9:g.45749247_45749248delinsGA	NCBI36
NG_013378.1:g.15805_15806delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1773_*1774delinsGA (MMACHC) MANE Select	ENSP00000383840.4:n.*1773_*1774delinsGA
ENST00000424390.2:c.*340_*341delinsTC (PRDX1)	ENSP00000389047.2:n.*340_*341delinsTC
ENST00000447184.6:c.*340_*341delinsTC (PRDX1)	ENSP00000407034.2:n.*340_*341delinsTC
ENST00000676549.1:c.*340_*341delinsTC (PRDX1)	ENSP00000503140.1:n.*340_*341delinsTC
ENST00000401061.8:c.*1773_*1774delinsGA (MMACHC)	ENSP00000383840.4:n.*1773_*1774delinsGA
ENST00000616135.1:c.*592_*593delinsGA (MMACHC)	ENSP00000478859.1:n.*592_*593delinsGA
NM_015506.2:c.*1773_*1774delinsGA (MMACHC)	NP_056321.2:n.*1773_*1774delinsGA
NM_001330540.1:c.*1773_*1774delinsGA (MMACHC)	NP_001317469.1:n.*1773_*1774delinsGA
XM_005270724.5:c.*1773_*1774delinsGA (MMACHC)	XP_005270781.1:n.*1773_*1774delinsGA
NM_015506.3:c.*1773_*1774delinsGA (MMACHC) MANE Select	NP_056321.2:n.*1773_*1774delinsGA
NM_001330540.2:c.*1773_*1774delinsGA (MMACHC)	NP_001317469.1:n.*1773_*1774delinsGA