Canonical Allele Identifier: CA2473784829

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1643731566
• gnomAD v4: 1-45510960-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510961_45510962del , CM000663.2:g.45510961_45510962del	GRCh38
NC_000001.10:g.45976633_45976634del , CM000663.1:g.45976633_45976634del	GRCh37
NC_000001.9:g.45749220_45749221del	NCBI36
NG_013378.1:g.15778_15779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1746_*1747del (MMACHC) MANE Select	ENSP00000383840.4:n.*1746_*1747del
ENST00000424390.2:c.*367_*368del (PRDX1)	ENSP00000389047.2:n.*367_*368del
ENST00000447184.6:c.*367_*368del (PRDX1)	ENSP00000407034.2:n.*367_*368del
ENST00000676549.1:c.*367_*368del (PRDX1)	ENSP00000503140.1:n.*367_*368del
ENST00000401061.8:c.*1746_*1747del (MMACHC)	ENSP00000383840.4:n.*1746_*1747del
ENST00000616135.1:c.*565_*566del (MMACHC)	ENSP00000478859.1:n.*565_*566del
NM_015506.2:c.*1746_*1747del (MMACHC)	NP_056321.2:n.*1746_*1747del
NM_001330540.1:c.*1746_*1747del (MMACHC)	NP_001317469.1:n.*1746_*1747del
XM_005270724.5:c.*1746_*1747del (MMACHC)	XP_005270781.1:n.*1746_*1747del
NM_015506.3:c.*1746_*1747del (MMACHC) MANE Select	NP_056321.2:n.*1746_*1747del
NM_001330540.2:c.*1746_*1747del (MMACHC)	NP_001317469.1:n.*1746_*1747del