Canonical Allele Identifier: CA736194621

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1376537850
• gnomAD v3: 1-45510955-TCTC-T
• gnomAD v4: 1-45510955-TCTC-T
• MyVariant Identifiers: chr1:g.45976628_45976630del (hg19) ; chr1:g.45510956_45510958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510959_45510961del , CM000663.2:g.45510959_45510961del	GRCh38
NC_000001.10:g.45976631_45976633del , CM000663.1:g.45976631_45976633del	GRCh37
NC_000001.9:g.45749218_45749220del	NCBI36
NG_013378.1:g.15776_15778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1744_*1746del (MMACHC) MANE Select	ENSP00000383840.4:n.*1744_*1746del
ENST00000424390.2:c.*371_*373del (PRDX1)	ENSP00000389047.2:n.*371_*373del
ENST00000447184.6:c.*371_*373del (PRDX1)	ENSP00000407034.2:n.*371_*373del
ENST00000676549.1:c.*371_*373del (PRDX1)	ENSP00000503140.1:n.*371_*373del
ENST00000401061.8:c.*1744_*1746del (MMACHC)	ENSP00000383840.4:n.*1744_*1746del
ENST00000616135.1:c.*563_*565del (MMACHC)	ENSP00000478859.1:n.*563_*565del
NM_015506.2:c.*1744_*1746del (MMACHC)	NP_056321.2:n.*1744_*1746del
NM_001330540.1:c.*1744_*1746del (MMACHC)	NP_001317469.1:n.*1744_*1746del
XM_005270724.5:c.*1744_*1746del (MMACHC)	XP_005270781.1:n.*1744_*1746del
NM_015506.3:c.*1744_*1746del (MMACHC) MANE Select	NP_056321.2:n.*1744_*1746del
NM_001330540.2:c.*1744_*1746del (MMACHC)	NP_001317469.1:n.*1744_*1746del