Canonical Allele Identifier: CA2645392700

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511002-TAAAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511007_45511012del , CM000663.2:g.45511007_45511012del	GRCh38
NC_000001.10:g.45976679_45976684del , CM000663.1:g.45976679_45976684del	GRCh37
NC_000001.9:g.45749266_45749271del	NCBI36
NG_013378.1:g.15824_15829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1792_*1797del (MMACHC) MANE Select	ENSP00000383840.4:n.*1792_*1797del
ENST00000424390.2:c.*321_*326del (PRDX1)	ENSP00000389047.2:n.*321_*326del
ENST00000447184.6:c.*321_*326del (PRDX1)	ENSP00000407034.2:n.*321_*326del
ENST00000676549.1:c.*321_*326del (PRDX1)	ENSP00000503140.1:n.*321_*326del
ENST00000401061.8:c.*1792_*1797del (MMACHC)	ENSP00000383840.4:n.*1792_*1797del
ENST00000616135.1:c.*611_*616del (MMACHC)	ENSP00000478859.1:n.*611_*616del
NM_015506.2:c.*1792_*1797del (MMACHC)	NP_056321.2:n.*1792_*1797del
NM_001330540.1:c.*1792_*1797del (MMACHC)	NP_001317469.1:n.*1792_*1797del
XM_005270724.5:c.*1792_*1797del (MMACHC)	XP_005270781.1:n.*1792_*1797del
NM_015506.3:c.*1792_*1797del (MMACHC) MANE Select	NP_056321.2:n.*1792_*1797del
NM_001330540.2:c.*1792_*1797del (MMACHC)	NP_001317469.1:n.*1792_*1797del