Canonical Allele Identifier: CA2021109505

Gene: PYROXD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449596_21449597delinsTA , CM000674.2:g.21449596_21449597delinsTA	GRCh38
NC_000012.11:g.21602530_21602531delinsTA , CM000674.1:g.21602530_21602531delinsTA	GRCh37
NC_000012.10:g.21493797_21493798delinsTA	NCBI36
NG_053196.1:g.16993_16994delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.319_320delinsTA MANE Select	ENSP00000240651.9:p.Tyr107=
ENST00000240651.13:c.319_320delinsTA	ENSP00000240651.9:p.Tyr107=
ENST00000375266.8:c.*245_*246delinsTA	ENSP00000364415.4:n.*245_*246delinsTA
ENST00000538582.5:c.106_107delinsTA	ENSP00000438505.1:p.Tyr36=
ENST00000543476.5:c.319_320delinsTA	ENSP00000440192.1:p.Tyr107=
ENST00000544970.5:c.319_320delinsTA	ENSP00000439106.1:p.Tyr107=
NM_024854.3:c.319_320delinsTA	NP_079130.2:p.Tyr107=
XM_006719153.2:c.319_320delinsTA	XP_006719216.1:p.Tyr107=
XR_242902.3:n.446_447delinsTA
NM_001350912.1:c.106_107delinsTA	NP_001337841.1:p.Tyr36=
NM_001350913.1:c.-385_-384delinsTA	NP_001337842.1:n.-385_-384delinsTA
NM_024854.4:c.319_320delinsTA	NP_079130.2:p.Tyr107=
XM_006719153.3:c.319_320delinsTA	XP_006719216.1:p.Tyr107=
XR_242902.4:n.420_421delinsTA
NM_024854.5:c.319_320delinsTA MANE Select	NP_079130.2:p.Tyr107=
NM_001350913.2:c.-385_-384delinsTA	NP_001337842.1:n.-385_-384delinsTA
NM_001350912.2:c.106_107delinsTA	NP_001337841.1:p.Tyr36=