Canonical Allele Identifier: CA2673427945

Gene: PDZD2

Linked Data

• gnomAD v4: 5-32000415-C-CGTTGCCCTGTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000415_32000416insGTTGCCCTGTGGA , CM000667.2:g.32000415_32000416insGTTGCCCTGTGGA	GRCh38
NC_000005.9:g.32000521_32000522insGTTGCCCTGTGGA , CM000667.1:g.32000521_32000522insGTTGCCCTGTGGA	GRCh37
NC_000005.8:g.32036278_32036279insGTTGCCCTGTGGA	NCBI36
NG_033962.1:g.206492_206493insGTTGCCCTGTGGA
NG_033962.2:g.366006_366007insGTTGCCCTGTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1254+144_1254+145insGTTGCCCTGTGGA MANE Select	ENSP00000402033.1:n.1254+144_1254+145insG...
ENST00000438447.1:c.1254+144_1254+145insGTTGCCCTGTGGA	ENSP00000402033.1:n.1254+144_1254+145insG...
ENST00000502489.5:n.1010+144_1010+145insGTTGCCCTGTGGA
NM_178140.2:c.1254+144_1254+145insGTTGCCCTGTGGA	NP_835260.2:n.1254+144_1254+145insGTTGCCC...
XM_005248269.3:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_005248326.1:n.1254+144_1254+145insGTTG...
XM_005248270.3:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_005248327.1:n.1254+144_1254+145insGTTG...
XM_005248271.1:c.732+144_732+145insGTTGCCCTGTGGA	XP_005248328.1:n.732+144_732+145insGTTGCC...
XM_005248272.3:c.732+144_732+145insGTTGCCCTGTGGA	XP_005248329.1:n.732+144_732+145insGTTGCC...
XM_006714460.2:c.261+144_261+145insGTTGCCCTGTGGA	XP_006714523.1:n.261+144_261+145insGTTGCC...
XM_011513992.1:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512294.1:n.1254+144_1254+145insGTTG...
XM_011513993.1:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512295.1:n.1254+144_1254+145insGTTG...
XM_011513994.1:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512296.1:n.1254+144_1254+145insGTTG...
XM_011513995.1:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512297.1:n.1254+144_1254+145insGTTG...
XM_011513996.1:c.979-9915_979-9914insGTTGCCCTGTGGA	XP_011512298.1:n.979-9915_979-9914insGTTG...
XM_011513997.1:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512299.1:n.1254+144_1254+145insGTTG...
NM_178140.3:c.1254+144_1254+145insGTTGCCCTGTGGA	NP_835260.2:n.1254+144_1254+145insGTTGCCC...
XM_005248269.4:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_005248326.1:n.1254+144_1254+145insGTTG...
XM_005248272.4:c.732+144_732+145insGTTGCCCTGTGGA	XP_005248329.1:n.732+144_732+145insGTTGCC...
XM_011513992.2:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512294.1:n.1254+144_1254+145insGTTG...
XM_011513993.2:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512295.1:n.1254+144_1254+145insGTTG...
XM_011513994.2:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512296.1:n.1254+144_1254+145insGTTG...
XM_011513995.2:c.1254+144_1254+145insGTTGCCCTGTGGA	XP_011512297.1:n.1254+144_1254+145insGTTG...
XM_011513996.2:c.979-9915_979-9914insGTTGCCCTGTGGA	XP_011512298.1:n.979-9915_979-9914insGTTG...
XM_017009245.1:c.457-9915_457-9914insGTTGCCCTGTGGA	XP_016864734.1:n.457-9915_457-9914insGTTG...
XM_017009246.1:c.261+144_261+145insGTTGCCCTGTGGA	XP_016864735.1:n.261+144_261+145insGTTGCC...
NM_178140.4:c.1254+144_1254+145insGTTGCCCTGTGGA MANE Select	NP_835260.2:n.1254+144_1254+145insGTTGCCC...