Canonical Allele Identifier: CA558449086

Gene: PDZD2

Linked Data

• dbSNP Id: rs1420484953
• gnomAD v2: 5-32000469-CAT-C
• gnomAD v3: 5-32000363-CAT-C
• gnomAD v4: 5-32000363-CAT-C
• MyVariant Identifiers: chr5:g.32000470_32000471del (hg19) ; chr5:g.32000364_32000365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000364_32000365del , CM000667.2:g.32000364_32000365del	GRCh38
NC_000005.9:g.32000470_32000471del , CM000667.1:g.32000470_32000471del	GRCh37
NC_000005.8:g.32036227_32036228del	NCBI36
NG_033962.1:g.206441_206442del
NG_033962.2:g.365955_365956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1254+93_1254+94del MANE Select	ENSP00000402033.1:n.1254+93_1254+94del
ENST00000438447.1:c.1254+93_1254+94del	ENSP00000402033.1:n.1254+93_1254+94del
ENST00000502489.5:n.1010+93_1010+94del
NM_178140.2:c.1254+93_1254+94del	NP_835260.2:n.1254+93_1254+94del
XM_005248269.3:c.1254+93_1254+94del	XP_005248326.1:n.1254+93_1254+94del
XM_005248270.3:c.1254+93_1254+94del	XP_005248327.1:n.1254+93_1254+94del
XM_005248271.1:c.732+93_732+94del	XP_005248328.1:n.732+93_732+94del
XM_005248272.3:c.732+93_732+94del	XP_005248329.1:n.732+93_732+94del
XM_006714460.2:c.261+93_261+94del	XP_006714523.1:n.261+93_261+94del
XM_011513992.1:c.1254+93_1254+94del	XP_011512294.1:n.1254+93_1254+94del
XM_011513993.1:c.1254+93_1254+94del	XP_011512295.1:n.1254+93_1254+94del
XM_011513994.1:c.1254+93_1254+94del	XP_011512296.1:n.1254+93_1254+94del
XM_011513995.1:c.1254+93_1254+94del	XP_011512297.1:n.1254+93_1254+94del
XM_011513996.1:c.979-9966_979-9965del	XP_011512298.1:n.979-9966_979-9965del
XM_011513997.1:c.1254+93_1254+94del	XP_011512299.1:n.1254+93_1254+94del
NM_178140.3:c.1254+93_1254+94del	NP_835260.2:n.1254+93_1254+94del
XM_005248269.4:c.1254+93_1254+94del	XP_005248326.1:n.1254+93_1254+94del
XM_005248272.4:c.732+93_732+94del	XP_005248329.1:n.732+93_732+94del
XM_011513992.2:c.1254+93_1254+94del	XP_011512294.1:n.1254+93_1254+94del
XM_011513993.2:c.1254+93_1254+94del	XP_011512295.1:n.1254+93_1254+94del
XM_011513994.2:c.1254+93_1254+94del	XP_011512296.1:n.1254+93_1254+94del
XM_011513995.2:c.1254+93_1254+94del	XP_011512297.1:n.1254+93_1254+94del
XM_011513996.2:c.979-9966_979-9965del	XP_011512298.1:n.979-9966_979-9965del
XM_017009245.1:c.457-9966_457-9965del	XP_016864734.1:n.457-9966_457-9965del
XM_017009246.1:c.261+93_261+94del	XP_016864735.1:n.261+93_261+94del
NM_178140.4:c.1254+93_1254+94del MANE Select	NP_835260.2:n.1254+93_1254+94del