Canonical Allele Identifier: CA919039647

Gene: PYROXD1

Linked Data

• dbSNP Id: rs1591943161

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449597del , CM000674.2:g.21449597del	GRCh38
NC_000012.11:g.21602531del , CM000674.1:g.21602531del	GRCh37
NC_000012.10:g.21493798del	NCBI36
NG_053196.1:g.16994del

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.320del MANE Select	ENSP00000240651.9:p.Tyr107LeufsTer14
ENST00000240651.13:c.320del	ENSP00000240651.9:p.Tyr107LeufsTer14
ENST00000375266.8:c.*246del	ENSP00000364415.4:n.*246del
ENST00000538582.5:c.107del	ENSP00000438505.1:p.Tyr36LeufsTer14
ENST00000543476.5:c.320del	ENSP00000440192.1:p.Tyr107LeufsTer14
ENST00000544970.5:c.320del	ENSP00000439106.1:p.Tyr107LeufsTer14
NM_024854.3:c.320del	NP_079130.2:p.Tyr107LeufsTer14
XM_006719153.2:c.320del	XP_006719216.1:p.Tyr107LeufsTer14
XR_242902.3:n.447del
NM_001350912.1:c.107del	NP_001337841.1:p.Tyr36LeufsTer14
NM_001350913.1:c.-384del	NP_001337842.1:n.-384del
NM_024854.4:c.320del	NP_079130.2:p.Tyr107LeufsTer14
XM_006719153.3:c.320del	XP_006719216.1:p.Tyr107LeufsTer14
XR_242902.4:n.421del
NM_024854.5:c.320del MANE Select	NP_079130.2:p.Tyr107LeufsTer14
NM_001350913.2:c.-384del	NP_001337842.1:n.-384del
NM_001350912.2:c.107del	NP_001337841.1:p.Tyr36LeufsTer14