Canonical Allele Identifier: CA2473784818

Gene: MMACHC PRDX1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510938_45510940delinsCCT , CM000663.2:g.45510938_45510940delinsCCT	GRCh38
NC_000001.10:g.45976610_45976612delinsCCT , CM000663.1:g.45976610_45976612delinsCCT	GRCh37
NC_000001.9:g.45749197_45749199delinsCCT	NCBI36
NG_013378.1:g.15755_15757delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1723_*1725delinsCCT (MMACHC) MANE Select	ENSP00000383840.4:n.*1723_*1725delinsCCT
ENST00000424390.2:c.*389_*391delinsAGG (PRDX1)	ENSP00000389047.2:n.*389_*391delinsAGG
ENST00000447184.6:c.*389_*391delinsAGG (PRDX1)	ENSP00000407034.2:n.*389_*391delinsAGG
ENST00000676549.1:c.*389_*391delinsAGG (PRDX1)	ENSP00000503140.1:n.*389_*391delinsAGG
ENST00000401061.8:c.*1723_*1725delinsCCT (MMACHC)	ENSP00000383840.4:n.*1723_*1725delinsCCT
ENST00000616135.1:c.*542_*544delinsCCT (MMACHC)	ENSP00000478859.1:n.*542_*544delinsCCT
NM_015506.2:c.*1723_*1725delinsCCT (MMACHC)	NP_056321.2:n.*1723_*1725delinsCCT
NM_001330540.1:c.*1723_*1725delinsCCT (MMACHC)	NP_001317469.1:n.*1723_*1725delinsCCT
XM_005270724.5:c.*1723_*1725delinsCCT (MMACHC)	XP_005270781.1:n.*1723_*1725delinsCCT
NM_015506.3:c.*1723_*1725delinsCCT (MMACHC) MANE Select	NP_056321.2:n.*1723_*1725delinsCCT
NM_001330540.2:c.*1723_*1725delinsCCT (MMACHC)	NP_001317469.1:n.*1723_*1725delinsCCT