Canonical Allele Identifier: CA6478177

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 2498275
• ClinVar RCV Id: RCV003222493 ; RCV003779783
• dbSNP Id: rs765752811
• ExAC: 12:21602539 CTCTG / C
• gnomAD v2: 12-21602539-CTCTG-C
• gnomAD v3: 12-21449605-CTCTG-C
• gnomAD v4: 12-21449605-CTCTG-C
• MyVariant Identifiers: chr12:g.21602540_21602543del (hg19) ; chr12:g.21449606_21449609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449611_21449614del , CM000674.2:g.21449611_21449614del	GRCh38
NC_000012.11:g.21602545_21602548del , CM000674.1:g.21602545_21602548del	GRCh37
NC_000012.10:g.21493812_21493815del	NCBI36
NG_053196.1:g.17008_17011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.334_337del MANE Select	ENSP00000240651.9:p.Leu112ValfsTer8
ENST00000240651.13:c.334_337del	ENSP00000240651.9:p.Leu112ValfsTer8
ENST00000375266.8:c.*260_*263del	ENSP00000364415.4:n.*260_*263del
ENST00000538582.5:c.121_124del	ENSP00000438505.1:p.Leu41ValfsTer8
ENST00000543476.5:c.334_337del	ENSP00000440192.1:p.Leu112ValfsTer8
ENST00000544970.5:c.334_337del	ENSP00000439106.1:p.Leu112ValfsTer8
NM_024854.3:c.334_337del	NP_079130.2:p.Leu112ValfsTer8
XM_006719153.2:c.334_337del	XP_006719216.1:p.Leu112ValfsTer8
XR_242902.3:n.461_464del
NM_001350912.1:c.121_124del	NP_001337841.1:p.Leu41ValfsTer8
NM_001350913.1:c.-370_-367del	NP_001337842.1:n.-370_-367del
NM_024854.4:c.334_337del	NP_079130.2:p.Leu112ValfsTer8
XM_006719153.3:c.334_337del	XP_006719216.1:p.Leu112ValfsTer8
XR_242902.4:n.435_438del
NM_024854.5:c.334_337del MANE Select	NP_079130.2:p.Leu112ValfsTer8
NM_001350913.2:c.-370_-367del	NP_001337842.1:n.-370_-367del
NM_001350912.2:c.121_124del	NP_001337841.1:p.Leu41ValfsTer8