Canonical Allele Identifier: CA2522704525

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000263del , CM000667.2:g.32000263del	GRCh38
NC_000005.9:g.32000369del , CM000667.1:g.32000369del	GRCh37
NC_000005.8:g.32036126del	NCBI36
NG_033962.1:g.206340del
NG_033962.2:g.365854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1246del MANE Select	ENSP00000402033.1:p.Ala416ProfsTer13
ENST00000438447.1:c.1246del	ENSP00000402033.1:p.Ala416ProfsTer13
ENST00000502489.5:n.1002del
NM_178140.2:c.1246del	NP_835260.2:p.Ala416ProfsTer13
XM_005248269.3:c.1246del	XP_005248326.1:p.Ala416ProfsTer13
XM_005248270.3:c.1246del	XP_005248327.1:p.Ala416ProfsTer13
XM_005248271.1:c.724del	XP_005248328.1:p.Ala242ProfsTer13
XM_005248272.3:c.724del	XP_005248329.1:p.Ala242ProfsTer13
XM_006714460.2:c.253del	XP_006714523.1:p.Ala85ProfsTer13
XM_011513992.1:c.1246del	XP_011512294.1:p.Ala416ProfsTer13
XM_011513993.1:c.1246del	XP_011512295.1:p.Ala416ProfsTer13
XM_011513994.1:c.1246del	XP_011512296.1:p.Ala416ProfsTer13
XM_011513995.1:c.1246del	XP_011512297.1:p.Ala416ProfsTer13
XM_011513996.1:c.979-10067del	XP_011512298.1:n.979-10067del
XM_011513997.1:c.1246del	XP_011512299.1:p.Ala416ProfsTer13
NM_178140.3:c.1246del	NP_835260.2:p.Ala416ProfsTer13
XM_005248269.4:c.1246del	XP_005248326.1:p.Ala416ProfsTer13
XM_005248272.4:c.724del	XP_005248329.1:p.Ala242ProfsTer13
XM_011513992.2:c.1246del	XP_011512294.1:p.Ala416ProfsTer13
XM_011513993.2:c.1246del	XP_011512295.1:p.Ala416ProfsTer13
XM_011513994.2:c.1246del	XP_011512296.1:p.Ala416ProfsTer13
XM_011513995.2:c.1246del	XP_011512297.1:p.Ala416ProfsTer13
XM_011513996.2:c.979-10067del	XP_011512298.1:n.979-10067del
XM_017009245.1:c.457-10067del	XP_016864734.1:n.457-10067del
XM_017009246.1:c.253del	XP_016864735.1:p.Ala85ProfsTer13
NM_178140.4:c.1246del MANE Select	NP_835260.2:p.Ala416ProfsTer13