Canonical Allele Identifier: CA424506484

Gene: PXDN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1666401del , CM000664.2:g.1666401del	GRCh38
NC_000002.11:g.1670173del , CM000664.1:g.1670173del	GRCh37
NC_000002.10:g.1649180del	NCBI36
NG_034221.1:g.83152del

Transcript Alleles

HGVS	Amino-acid Change
NM_012293.3:c.1109del MANE Select	NP_036425.1:p.Pro370ArgfsTer20
ENST00000252804.9:c.1109del MANE Select	ENSP00000252804.4:p.Pro370ArgfsTer20
NM_012293.2:c.1109del	NP_036425.1:p.Pro370ArgfsTer20
ENST00000252804.8:c.1109del	ENSP00000252804.4:p.Pro370ArgfsTer20
ENST00000425171.2:c.1037del	ENSP00000398363.2:p.Pro346ArgfsTer20
ENST00000433670.5:c.1096del
ENST00000467191.5:n.301del
ENST00000477810.1:n.503del
ENST00000478155.5:n.507del
ENST00000483018.5:n.455del
XM_005264707.2:c.1037del	XP_005264764.1:p.Pro346ArgfsTer20
XM_005264707.3:c.1037del	XP_005264764.1:p.Pro346ArgfsTer20
XM_011510395.1:c.920del	XP_011508697.1:p.Pro307ArgfsTer20
XM_011510396.1:c.560del	XP_011508698.1:p.Pro187ArgfsTer20
XM_011510397.1:c.560del	XP_011508699.1:p.Pro187ArgfsTer20