Canonical Allele Identifier: CA2575097245

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449604-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449607_21449608del , CM000674.2:g.21449607_21449608del	GRCh38
NC_000012.11:g.21602541_21602542del , CM000674.1:g.21602541_21602542del	GRCh37
NC_000012.10:g.21493808_21493809del	NCBI36
NG_053196.1:g.17004_17005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.330_331del MANE Select	ENSP00000240651.9:p.Cys111SerfsTer6
ENST00000240651.13:c.330_331del	ENSP00000240651.9:p.Cys111SerfsTer6
ENST00000375266.8:c.*256_*257del	ENSP00000364415.4:n.*256_*257del
ENST00000538582.5:c.117_118del	ENSP00000438505.1:p.Cys40SerfsTer6
ENST00000543476.5:c.330_331del	ENSP00000440192.1:p.Cys111SerfsTer6
ENST00000544970.5:c.330_331del	ENSP00000439106.1:p.Cys111SerfsTer6
NM_024854.3:c.330_331del	NP_079130.2:p.Cys111SerfsTer6
XM_006719153.2:c.330_331del	XP_006719216.1:p.Cys111SerfsTer6
XR_242902.3:n.457_458del
NM_001350912.1:c.117_118del	NP_001337841.1:p.Cys40SerfsTer6
NM_001350913.1:c.-374_-373del	NP_001337842.1:n.-374_-373del
NM_024854.4:c.330_331del	NP_079130.2:p.Cys111SerfsTer6
XM_006719153.3:c.330_331del	XP_006719216.1:p.Cys111SerfsTer6
XR_242902.4:n.431_432del
NM_024854.5:c.330_331del MANE Select	NP_079130.2:p.Cys111SerfsTer6
NM_001350913.2:c.-374_-373del	NP_001337842.1:n.-374_-373del
NM_001350912.2:c.117_118del	NP_001337841.1:p.Cys40SerfsTer6