Canonical Allele Identifier: CA2645392684

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45510979-GAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510982_45511017del , CM000663.2:g.45510982_45511017del	GRCh38
NC_000001.10:g.45976654_45976689del , CM000663.1:g.45976654_45976689del	GRCh37
NC_000001.9:g.45749241_45749276del	NCBI36
NG_013378.1:g.15799_15834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1767_*1802del (MMACHC) MANE Select	ENSP00000383840.4:n.*1767_*1802del
ENST00000424390.2:c.*314_*349del (PRDX1)	ENSP00000389047.2:n.*314_*349del
ENST00000447184.6:c.*314_*349del (PRDX1)	ENSP00000407034.2:n.*314_*349del
ENST00000676549.1:c.*314_*349del (PRDX1)	ENSP00000503140.1:n.*314_*349del
ENST00000401061.8:c.*1767_*1802del (MMACHC)	ENSP00000383840.4:n.*1767_*1802del
ENST00000616135.1:c.*586_*621del (MMACHC)	ENSP00000478859.1:n.*586_*621del
NM_015506.2:c.*1767_*1802del (MMACHC)	NP_056321.2:n.*1767_*1802del
NM_001330540.1:c.*1767_*1802del (MMACHC)	NP_001317469.1:n.*1767_*1802del
XM_005270724.5:c.*1767_*1802del (MMACHC)	XP_005270781.1:n.*1767_*1802del
NM_015506.3:c.*1767_*1802del (MMACHC) MANE Select	NP_056321.2:n.*1767_*1802del
NM_001330540.2:c.*1767_*1802del (MMACHC)	NP_001317469.1:n.*1767_*1802del