Canonical Allele Identifier: CA1001246344

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1643731775
• gnomAD v3: 1-45510980-AAAGC-A
• gnomAD v4: 1-45510980-AAAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510984_45510987del , CM000663.2:g.45510984_45510987del	GRCh38
NC_000001.10:g.45976656_45976659del , CM000663.1:g.45976656_45976659del	GRCh37
NC_000001.9:g.45749243_45749246del	NCBI36
NG_013378.1:g.15801_15804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1769_*1772del (MMACHC) MANE Select	ENSP00000383840.4:n.*1769_*1772del
ENST00000424390.2:c.*345_*348del (PRDX1)	ENSP00000389047.2:n.*345_*348del
ENST00000447184.6:c.*345_*348del (PRDX1)	ENSP00000407034.2:n.*345_*348del
ENST00000676549.1:c.*345_*348del (PRDX1)	ENSP00000503140.1:n.*345_*348del
ENST00000401061.8:c.*1769_*1772del (MMACHC)	ENSP00000383840.4:n.*1769_*1772del
ENST00000616135.1:c.*588_*591del (MMACHC)	ENSP00000478859.1:n.*588_*591del
NM_015506.2:c.*1769_*1772del (MMACHC)	NP_056321.2:n.*1769_*1772del
NM_001330540.1:c.*1769_*1772del (MMACHC)	NP_001317469.1:n.*1769_*1772del
XM_005270724.5:c.*1769_*1772del (MMACHC)	XP_005270781.1:n.*1769_*1772del
NM_015506.3:c.*1769_*1772del (MMACHC) MANE Select	NP_056321.2:n.*1769_*1772del
NM_001330540.2:c.*1769_*1772del (MMACHC)	NP_001317469.1:n.*1769_*1772del