Canonical Allele Identifier: CA2673427931
Gene: PDZD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000402_32000409del , CM000667.2:g.32000402_32000409del GRCh38
NC_000005.9:g.32000508_32000515del , CM000667.1:g.32000508_32000515del GRCh37
NC_000005.8:g.32036265_32036272del NCBI36
NG_033962.1:g.206479_206486del
NG_033962.2:g.365993_366000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000438447.2:c.1254+131_1254+138del MANE Select ENSP00000402033.1:n.1254+131_1254+138del
ENST00000438447.1:c.1254+131_1254+138del ENSP00000402033.1:n.1254+131_1254+138del
ENST00000502489.5:n.1010+131_1010+138del
NM_178140.2:c.1254+131_1254+138del NP_835260.2:n.1254+131_1254+138del
XM_005248269.3:c.1254+131_1254+138del XP_005248326.1:n.1254+131_1254+138del
XM_005248270.3:c.1254+131_1254+138del XP_005248327.1:n.1254+131_1254+138del
XM_005248271.1:c.732+131_732+138del XP_005248328.1:n.732+131_732+138del
XM_005248272.3:c.732+131_732+138del XP_005248329.1:n.732+131_732+138del
XM_006714460.2:c.261+131_261+138del XP_006714523.1:n.261+131_261+138del
XM_011513992.1:c.1254+131_1254+138del XP_011512294.1:n.1254+131_1254+138del
XM_011513993.1:c.1254+131_1254+138del XP_011512295.1:n.1254+131_1254+138del
XM_011513994.1:c.1254+131_1254+138del XP_011512296.1:n.1254+131_1254+138del
XM_011513995.1:c.1254+131_1254+138del XP_011512297.1:n.1254+131_1254+138del
XM_011513996.1:c.979-9928_979-9921del XP_011512298.1:n.979-9928_979-9921del
XM_011513997.1:c.1254+131_1254+138del XP_011512299.1:n.1254+131_1254+138del
NM_178140.3:c.1254+131_1254+138del NP_835260.2:n.1254+131_1254+138del
XM_005248269.4:c.1254+131_1254+138del XP_005248326.1:n.1254+131_1254+138del
XM_005248272.4:c.732+131_732+138del XP_005248329.1:n.732+131_732+138del
XM_011513992.2:c.1254+131_1254+138del XP_011512294.1:n.1254+131_1254+138del
XM_011513993.2:c.1254+131_1254+138del XP_011512295.1:n.1254+131_1254+138del
XM_011513994.2:c.1254+131_1254+138del XP_011512296.1:n.1254+131_1254+138del
XM_011513995.2:c.1254+131_1254+138del XP_011512297.1:n.1254+131_1254+138del
XM_011513996.2:c.979-9928_979-9921del XP_011512298.1:n.979-9928_979-9921del
XM_017009245.1:c.457-9928_457-9921del XP_016864734.1:n.457-9928_457-9921del
XM_017009246.1:c.261+131_261+138del XP_016864735.1:n.261+131_261+138del
NM_178140.4:c.1254+131_1254+138del MANE Select NP_835260.2:n.1254+131_1254+138del