Canonical Allele Identifier: CA1537301016

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000476_32000491delinsGAAGTTTGTTTTTGTT , CM000667.2:g.32000476_32000491delinsGAAGTTTGTTTTTGTT	GRCh38
NC_000005.9:g.32000582_32000597delinsGAAGTTTGTTTTTGTT , CM000667.1:g.32000582_32000597delinsGAAGTTTGTTTTTGTT	GRCh37
NC_000005.8:g.32036339_32036354delinsGAAGTTTGTTTTTGTT	NCBI36
NG_033962.1:g.206553_206568delinsGAAGTTTGTTTTTGTT
NG_033962.2:g.366067_366082delinsGAAGTTTGTTTTTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT MANE Select	ENSP00000402033.1:n.1254+205_1254+220deli...
ENST00000438447.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	ENSP00000402033.1:n.1254+205_1254+220deli...
ENST00000502489.5:n.1010+205_1010+220delinsGAAGTTTGTTTTTGTT
NM_178140.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	NP_835260.2:n.1254+205_1254+220delinsGAAG...
XM_005248269.3:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_005248326.1:n.1254+205_1254+220delinsG...
XM_005248270.3:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_005248327.1:n.1254+205_1254+220delinsG...
XM_005248271.1:c.732+205_732+220delinsGAAGTTTGTTTTTGTT	XP_005248328.1:n.732+205_732+220delinsGAA...
XM_005248272.3:c.732+205_732+220delinsGAAGTTTGTTTTTGTT	XP_005248329.1:n.732+205_732+220delinsGAA...
XM_006714460.2:c.261+205_261+220delinsGAAGTTTGTTTTTGTT	XP_006714523.1:n.261+205_261+220delinsGAA...
XM_011513992.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512294.1:n.1254+205_1254+220delinsG...
XM_011513993.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512295.1:n.1254+205_1254+220delinsG...
XM_011513994.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512296.1:n.1254+205_1254+220delinsG...
XM_011513995.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512297.1:n.1254+205_1254+220delinsG...
XM_011513996.1:c.979-9854_979-9839delinsGAAGTTTGTTTTTGTT	XP_011512298.1:n.979-9854_979-9839delinsG...
XM_011513997.1:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512299.1:n.1254+205_1254+220delinsG...
NM_178140.3:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	NP_835260.2:n.1254+205_1254+220delinsGAAG...
XM_005248269.4:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_005248326.1:n.1254+205_1254+220delinsG...
XM_005248272.4:c.732+205_732+220delinsGAAGTTTGTTTTTGTT	XP_005248329.1:n.732+205_732+220delinsGAA...
XM_011513992.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512294.1:n.1254+205_1254+220delinsG...
XM_011513993.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512295.1:n.1254+205_1254+220delinsG...
XM_011513994.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512296.1:n.1254+205_1254+220delinsG...
XM_011513995.2:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT	XP_011512297.1:n.1254+205_1254+220delinsG...
XM_011513996.2:c.979-9854_979-9839delinsGAAGTTTGTTTTTGTT	XP_011512298.1:n.979-9854_979-9839delinsG...
XM_017009245.1:c.457-9854_457-9839delinsGAAGTTTGTTTTTGTT	XP_016864734.1:n.457-9854_457-9839delinsG...
XM_017009246.1:c.261+205_261+220delinsGAAGTTTGTTTTTGTT	XP_016864735.1:n.261+205_261+220delinsGAA...
NM_178140.4:c.1254+205_1254+220delinsGAAGTTTGTTTTTGTT MANE Select	NP_835260.2:n.1254+205_1254+220delinsGAAG...