Canonical Allele Identifier: CA2548019664

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000582_32000583insGA , CM000667.2:g.32000582_32000583insGA	GRCh38
NC_000005.9:g.32000688_32000689insGA , CM000667.1:g.32000688_32000689insGA	GRCh37
NC_000005.8:g.32036445_32036446insGA	NCBI36
NG_033962.1:g.206659_206660insGA
NG_033962.2:g.366173_366174insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1254+311_1254+312insGA MANE Select	ENSP00000402033.1:n.1254+311_1254+312insGA
ENST00000438447.1:c.1254+311_1254+312insGA	ENSP00000402033.1:n.1254+311_1254+312insGA
ENST00000502489.5:n.1010+311_1010+312insGA
NM_178140.2:c.1254+311_1254+312insGA	NP_835260.2:n.1254+311_1254+312insGA
XM_005248269.3:c.1254+311_1254+312insGA	XP_005248326.1:n.1254+311_1254+312insGA
XM_005248270.3:c.1254+311_1254+312insGA	XP_005248327.1:n.1254+311_1254+312insGA
XM_005248271.1:c.732+311_732+312insGA	XP_005248328.1:n.732+311_732+312insGA
XM_005248272.3:c.732+311_732+312insGA	XP_005248329.1:n.732+311_732+312insGA
XM_006714460.2:c.261+311_261+312insGA	XP_006714523.1:n.261+311_261+312insGA
XM_011513992.1:c.1254+311_1254+312insGA	XP_011512294.1:n.1254+311_1254+312insGA
XM_011513993.1:c.1254+311_1254+312insGA	XP_011512295.1:n.1254+311_1254+312insGA
XM_011513994.1:c.1254+311_1254+312insGA	XP_011512296.1:n.1254+311_1254+312insGA
XM_011513995.1:c.1254+311_1254+312insGA	XP_011512297.1:n.1254+311_1254+312insGA
XM_011513996.1:c.979-9748_979-9747insGA	XP_011512298.1:n.979-9748_979-9747insGA
XM_011513997.1:c.1254+311_1254+312insGA	XP_011512299.1:n.1254+311_1254+312insGA
NM_178140.3:c.1254+311_1254+312insGA	NP_835260.2:n.1254+311_1254+312insGA
XM_005248269.4:c.1254+311_1254+312insGA	XP_005248326.1:n.1254+311_1254+312insGA
XM_005248272.4:c.732+311_732+312insGA	XP_005248329.1:n.732+311_732+312insGA
XM_011513992.2:c.1254+311_1254+312insGA	XP_011512294.1:n.1254+311_1254+312insGA
XM_011513993.2:c.1254+311_1254+312insGA	XP_011512295.1:n.1254+311_1254+312insGA
XM_011513994.2:c.1254+311_1254+312insGA	XP_011512296.1:n.1254+311_1254+312insGA
XM_011513995.2:c.1254+311_1254+312insGA	XP_011512297.1:n.1254+311_1254+312insGA
XM_011513996.2:c.979-9748_979-9747insGA	XP_011512298.1:n.979-9748_979-9747insGA
XM_017009245.1:c.457-9748_457-9747insGA	XP_016864734.1:n.457-9748_457-9747insGA
XM_017009246.1:c.261+311_261+312insGA	XP_016864735.1:n.261+311_261+312insGA
NM_178140.4:c.1254+311_1254+312insGA MANE Select	NP_835260.2:n.1254+311_1254+312insGA