Canonical Allele Identifier: CA2645392711

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511014-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511020_45511022del , CM000663.2:g.45511020_45511022del	GRCh38
NC_000001.10:g.45976692_45976694del , CM000663.1:g.45976692_45976694del	GRCh37
NC_000001.9:g.45749279_45749281del	NCBI36
NG_013378.1:g.15837_15839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1805_*1807del (MMACHC) MANE Select	ENSP00000383840.4:n.*1805_*1807del
ENST00000424390.2:c.*312_*314del (PRDX1)	ENSP00000389047.2:n.*312_*314del
ENST00000447184.6:c.*312_*314del (PRDX1)	ENSP00000407034.2:n.*312_*314del
ENST00000676549.1:c.*312_*314del (PRDX1)	ENSP00000503140.1:n.*312_*314del
ENST00000401061.8:c.*1805_*1807del (MMACHC)	ENSP00000383840.4:n.*1805_*1807del
ENST00000616135.1:c.*624_*626del (MMACHC)	ENSP00000478859.1:n.*624_*626del
NM_015506.2:c.*1805_*1807del (MMACHC)	NP_056321.2:n.*1805_*1807del
NM_001330540.1:c.*1805_*1807del (MMACHC)	NP_001317469.1:n.*1805_*1807del
XM_005270724.5:c.*1805_*1807del (MMACHC)	XP_005270781.1:n.*1805_*1807del
NM_015506.3:c.*1805_*1807del (MMACHC) MANE Select	NP_056321.2:n.*1805_*1807del
NM_001330540.2:c.*1805_*1807del (MMACHC)	NP_001317469.1:n.*1805_*1807del