Canonical Allele Identifier: CA2534951038

Gene: PDZD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000565_32000566insTTTTTT , CM000667.2:g.32000565_32000566insTTTTTT	GRCh38
NC_000005.9:g.32000671_32000672insTTTTTT , CM000667.1:g.32000671_32000672insTTTTTT	GRCh37
NC_000005.8:g.32036428_32036429insTTTTTT	NCBI36
NG_033962.1:g.206642_206643insTTTTTT
NG_033962.2:g.366156_366157insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1254+294_1254+295insTTTTTT MANE Select	ENSP00000402033.1:n.1254+294_1254+295insTTTTTT
ENST00000438447.1:c.1254+294_1254+295insTTTTTT	ENSP00000402033.1:n.1254+294_1254+295insTTTTTT
ENST00000502489.5:n.1010+294_1010+295insTTTTTT
NM_178140.2:c.1254+294_1254+295insTTTTTT	NP_835260.2:n.1254+294_1254+295insTTTTTT
XM_005248269.3:c.1254+294_1254+295insTTTTTT	XP_005248326.1:n.1254+294_1254+295insTTTTTT
XM_005248270.3:c.1254+294_1254+295insTTTTTT	XP_005248327.1:n.1254+294_1254+295insTTTTTT
XM_005248271.1:c.732+294_732+295insTTTTTT	XP_005248328.1:n.732+294_732+295insTTTTTT
XM_005248272.3:c.732+294_732+295insTTTTTT	XP_005248329.1:n.732+294_732+295insTTTTTT
XM_006714460.2:c.261+294_261+295insTTTTTT	XP_006714523.1:n.261+294_261+295insTTTTTT
XM_011513992.1:c.1254+294_1254+295insTTTTTT	XP_011512294.1:n.1254+294_1254+295insTTTTTT
XM_011513993.1:c.1254+294_1254+295insTTTTTT	XP_011512295.1:n.1254+294_1254+295insTTTTTT
XM_011513994.1:c.1254+294_1254+295insTTTTTT	XP_011512296.1:n.1254+294_1254+295insTTTTTT
XM_011513995.1:c.1254+294_1254+295insTTTTTT	XP_011512297.1:n.1254+294_1254+295insTTTTTT
XM_011513996.1:c.979-9765_979-9764insTTTTTT	XP_011512298.1:n.979-9765_979-9764insTTTTTT
XM_011513997.1:c.1254+294_1254+295insTTTTTT	XP_011512299.1:n.1254+294_1254+295insTTTTTT
NM_178140.3:c.1254+294_1254+295insTTTTTT	NP_835260.2:n.1254+294_1254+295insTTTTTT
XM_005248269.4:c.1254+294_1254+295insTTTTTT	XP_005248326.1:n.1254+294_1254+295insTTTTTT
XM_005248272.4:c.732+294_732+295insTTTTTT	XP_005248329.1:n.732+294_732+295insTTTTTT
XM_011513992.2:c.1254+294_1254+295insTTTTTT	XP_011512294.1:n.1254+294_1254+295insTTTTTT
XM_011513993.2:c.1254+294_1254+295insTTTTTT	XP_011512295.1:n.1254+294_1254+295insTTTTTT
XM_011513994.2:c.1254+294_1254+295insTTTTTT	XP_011512296.1:n.1254+294_1254+295insTTTTTT
XM_011513995.2:c.1254+294_1254+295insTTTTTT	XP_011512297.1:n.1254+294_1254+295insTTTTTT
XM_011513996.2:c.979-9765_979-9764insTTTTTT	XP_011512298.1:n.979-9765_979-9764insTTTTTT
XM_017009245.1:c.457-9765_457-9764insTTTTTT	XP_016864734.1:n.457-9765_457-9764insTTTTTT
XM_017009246.1:c.261+294_261+295insTTTTTT	XP_016864735.1:n.261+294_261+295insTTTTTT
NM_178140.4:c.1254+294_1254+295insTTTTTT MANE Select	NP_835260.2:n.1254+294_1254+295insTTTTTT