Canonical Allele Identifier: CA2021109538

Gene: PYROXD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449607_21449609delinsCTG , CM000674.2:g.21449607_21449609delinsCTG	GRCh38
NC_000012.11:g.21602541_21602543delinsCTG , CM000674.1:g.21602541_21602543delinsCTG	GRCh37
NC_000012.10:g.21493808_21493810delinsCTG	NCBI36
NG_053196.1:g.17004_17006delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.330_332delinsCTG MANE Select	ENSP00000240651.9:p.Leu110=
ENST00000240651.13:c.330_332delinsCTG	ENSP00000240651.9:p.Leu110=
ENST00000375266.8:c.*256_*258delinsCTG	ENSP00000364415.4:n.*256_*258delinsCTG
ENST00000538582.5:c.117_119delinsCTG	ENSP00000438505.1:p.Leu39=
ENST00000543476.5:c.330_332delinsCTG	ENSP00000440192.1:p.Leu110=
ENST00000544970.5:c.330_332delinsCTG	ENSP00000439106.1:p.Leu110=
NM_024854.3:c.330_332delinsCTG	NP_079130.2:p.Leu110=
XM_006719153.2:c.330_332delinsCTG	XP_006719216.1:p.Leu110=
XR_242902.3:n.457_459delinsCTG
NM_001350912.1:c.117_119delinsCTG	NP_001337841.1:p.Leu39=
NM_001350913.1:c.-374_-372delinsCTG	NP_001337842.1:n.-374_-372delinsCTG
NM_024854.4:c.330_332delinsCTG	NP_079130.2:p.Leu110=
XM_006719153.3:c.330_332delinsCTG	XP_006719216.1:p.Leu110=
XR_242902.4:n.431_433delinsCTG
NM_024854.5:c.330_332delinsCTG MANE Select	NP_079130.2:p.Leu110=
NM_001350913.2:c.-374_-372delinsCTG	NP_001337842.1:n.-374_-372delinsCTG
NM_001350912.2:c.117_119delinsCTG	NP_001337841.1:p.Leu39=