Canonical Allele Identifier: CA1537301024

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000479_32000503delinsGTTTGTTTTTGTTTTTGTTTTTGTT , CM000667.2:g.32000479_32000503delinsGTTTGTTTTTGTTTTTGTTTTTGTT	GRCh38
NC_000005.9:g.32000585_32000609delinsGTTTGTTTTTGTTTTTGTTTTTGTT , CM000667.1:g.32000585_32000609delinsGTTTGTTTTTGTTTTTGTTTTTGTT	GRCh37
NC_000005.8:g.32036342_32036366delinsGTTTGTTTTTGTTTTTGTTTTTGTT	NCBI36
NG_033962.1:g.206556_206580delinsGTTTGTTTTTGTTTTTGTTTTTGTT
NG_033962.2:g.366070_366094delinsGTTTGTTTTTGTTTTTGTTTTTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT MANE Select	ENSP00000402033.1:n.1254+208_1254+232deli...
ENST00000438447.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	ENSP00000402033.1:n.1254+208_1254+232deli...
ENST00000502489.5:n.1010+208_1010+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT
NM_178140.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	NP_835260.2:n.1254+208_1254+232delinsGTTT...
XM_005248269.3:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248326.1:n.1254+208_1254+232delinsG...
XM_005248270.3:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248327.1:n.1254+208_1254+232delinsG...
XM_005248271.1:c.732+208_732+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248328.1:n.732+208_732+232delinsGTT...
XM_005248272.3:c.732+208_732+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248329.1:n.732+208_732+232delinsGTT...
XM_006714460.2:c.261+208_261+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_006714523.1:n.261+208_261+232delinsGTT...
XM_011513992.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512294.1:n.1254+208_1254+232delinsG...
XM_011513993.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512295.1:n.1254+208_1254+232delinsG...
XM_011513994.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512296.1:n.1254+208_1254+232delinsG...
XM_011513995.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512297.1:n.1254+208_1254+232delinsG...
XM_011513996.1:c.979-9851_979-9827delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512298.1:n.979-9851_979-9827delinsG...
XM_011513997.1:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512299.1:n.1254+208_1254+232delinsG...
NM_178140.3:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	NP_835260.2:n.1254+208_1254+232delinsGTTT...
XM_005248269.4:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248326.1:n.1254+208_1254+232delinsG...
XM_005248272.4:c.732+208_732+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_005248329.1:n.732+208_732+232delinsGTT...
XM_011513992.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512294.1:n.1254+208_1254+232delinsG...
XM_011513993.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512295.1:n.1254+208_1254+232delinsG...
XM_011513994.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512296.1:n.1254+208_1254+232delinsG...
XM_011513995.2:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512297.1:n.1254+208_1254+232delinsG...
XM_011513996.2:c.979-9851_979-9827delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_011512298.1:n.979-9851_979-9827delinsG...
XM_017009245.1:c.457-9851_457-9827delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_016864734.1:n.457-9851_457-9827delinsG...
XM_017009246.1:c.261+208_261+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT	XP_016864735.1:n.261+208_261+232delinsGTT...
NM_178140.4:c.1254+208_1254+232delinsGTTTGTTTTTGTTTTTGTTTTTGTT MANE Select	NP_835260.2:n.1254+208_1254+232delinsGTTT...