Canonical Allele Identifier: CA626724238

Gene: MPO

Linked Data

• dbSNP Id: rs1266756225
• gnomAD v2: 17-56351001-CA-C
• gnomAD v4: 17-58273640-CA-C
• MyVariant Identifiers: chr17:g.56351002del (hg19) ; chr17:g.58273641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273641del , CM000679.2:g.58273641del	GRCh38
NC_000017.10:g.56351002del , CM000679.1:g.56351002del	GRCh37
NC_000017.9:g.53706001del	NCBI36
NG_009629.1:g.12295del , LRG_84:g.12295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.727del
ENST00000699291.1:c.519del	ENSP00000514272.1:p.Gly174ValfsTer?
ENST00000699292.1:n.434del
ENST00000225275.4:c.1394del MANE Select	ENSP00000225275.3:p.Leu465ArgfsTer8
ENST00000225275.3:c.1394del	ENSP00000225275.3:p.Leu465ArgfsTer8
NM_000250.1:c.1394del , LRG_84t1:c.1394del	NP_000241.1:p.Leu465ArgfsTer8
XM_011524821.1:c.1580del	XP_011523123.1:p.Leu527ArgfsTer8
XM_011524822.1:c.1109del	XP_011523124.1:p.Leu370ArgfsTer8
XM_011524823.1:c.1419del	XP_011523125.1:p.Gly474ValfsTer?
NM_000250.2:c.1394del MANE Select	NP_000241.1:p.Leu465ArgfsTer8