Canonical Allele Identifier: CA2673427947
Gene: PDZD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000416_32000417insTAGCGTTGCCCTGT , CM000667.2:g.32000416_32000417insTAGCGTTGCCCTGT GRCh38
NC_000005.9:g.32000522_32000523insTAGCGTTGCCCTGT , CM000667.1:g.32000522_32000523insTAGCGTTGCCCTGT GRCh37
NC_000005.8:g.32036279_32036280insTAGCGTTGCCCTGT NCBI36
NG_033962.1:g.206493_206494insTAGCGTTGCCCTGT
NG_033962.2:g.366007_366008insTAGCGTTGCCCTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000438447.2:c.1254+145_1254+146insTAGCGTTGCCCTGT MANE Select ENSP00000402033.1:n.1254+145_1254+146insT...
ENST00000438447.1:c.1254+145_1254+146insTAGCGTTGCCCTGT ENSP00000402033.1:n.1254+145_1254+146insT...
ENST00000502489.5:n.1010+145_1010+146insTAGCGTTGCCCTGT
NM_178140.2:c.1254+145_1254+146insTAGCGTTGCCCTGT NP_835260.2:n.1254+145_1254+146insTAGCGTT...
XM_005248269.3:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_005248326.1:n.1254+145_1254+146insTAGC...
XM_005248270.3:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_005248327.1:n.1254+145_1254+146insTAGC...
XM_005248271.1:c.732+145_732+146insTAGCGTTGCCCTGT XP_005248328.1:n.732+145_732+146insTAGCGT...
XM_005248272.3:c.732+145_732+146insTAGCGTTGCCCTGT XP_005248329.1:n.732+145_732+146insTAGCGT...
XM_006714460.2:c.261+145_261+146insTAGCGTTGCCCTGT XP_006714523.1:n.261+145_261+146insTAGCGT...
XM_011513992.1:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512294.1:n.1254+145_1254+146insTAGC...
XM_011513993.1:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512295.1:n.1254+145_1254+146insTAGC...
XM_011513994.1:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512296.1:n.1254+145_1254+146insTAGC...
XM_011513995.1:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512297.1:n.1254+145_1254+146insTAGC...
XM_011513996.1:c.979-9914_979-9913insTAGCGTTGCCCTGT XP_011512298.1:n.979-9914_979-9913insTAGC...
XM_011513997.1:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512299.1:n.1254+145_1254+146insTAGC...
NM_178140.3:c.1254+145_1254+146insTAGCGTTGCCCTGT NP_835260.2:n.1254+145_1254+146insTAGCGTT...
XM_005248269.4:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_005248326.1:n.1254+145_1254+146insTAGC...
XM_005248272.4:c.732+145_732+146insTAGCGTTGCCCTGT XP_005248329.1:n.732+145_732+146insTAGCGT...
XM_011513992.2:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512294.1:n.1254+145_1254+146insTAGC...
XM_011513993.2:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512295.1:n.1254+145_1254+146insTAGC...
XM_011513994.2:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512296.1:n.1254+145_1254+146insTAGC...
XM_011513995.2:c.1254+145_1254+146insTAGCGTTGCCCTGT XP_011512297.1:n.1254+145_1254+146insTAGC...
XM_011513996.2:c.979-9914_979-9913insTAGCGTTGCCCTGT XP_011512298.1:n.979-9914_979-9913insTAGC...
XM_017009245.1:c.457-9914_457-9913insTAGCGTTGCCCTGT XP_016864734.1:n.457-9914_457-9913insTAGC...
XM_017009246.1:c.261+145_261+146insTAGCGTTGCCCTGT XP_016864735.1:n.261+145_261+146insTAGCGT...
NM_178140.4:c.1254+145_1254+146insTAGCGTTGCCCTGT MANE Select NP_835260.2:n.1254+145_1254+146insTAGCGTT...