Canonical Allele Identifier: CA2594862883

Gene: PDZD2

Linked Data

• gnomAD v3: 5-32000507-GTTTTTGTTTTTGT-G
• gnomAD v4: 5-32000507-GTTTTTGTTTTTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000513_32000525del , CM000667.2:g.32000513_32000525del	GRCh38
NC_000005.9:g.32000619_32000631del , CM000667.1:g.32000619_32000631del	GRCh37
NC_000005.8:g.32036376_32036388del	NCBI36
NG_033962.1:g.206590_206602del
NG_033962.2:g.366104_366116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1254+242_1254+254del MANE Select	ENSP00000402033.1:n.1254+242_1254+254del
ENST00000438447.1:c.1254+242_1254+254del	ENSP00000402033.1:n.1254+242_1254+254del
ENST00000502489.5:n.1010+242_1010+254del
NM_178140.2:c.1254+242_1254+254del	NP_835260.2:n.1254+242_1254+254del
XM_005248269.3:c.1254+242_1254+254del	XP_005248326.1:n.1254+242_1254+254del
XM_005248270.3:c.1254+242_1254+254del	XP_005248327.1:n.1254+242_1254+254del
XM_005248271.1:c.732+242_732+254del	XP_005248328.1:n.732+242_732+254del
XM_005248272.3:c.732+242_732+254del	XP_005248329.1:n.732+242_732+254del
XM_006714460.2:c.261+242_261+254del	XP_006714523.1:n.261+242_261+254del
XM_011513992.1:c.1254+242_1254+254del	XP_011512294.1:n.1254+242_1254+254del
XM_011513993.1:c.1254+242_1254+254del	XP_011512295.1:n.1254+242_1254+254del
XM_011513994.1:c.1254+242_1254+254del	XP_011512296.1:n.1254+242_1254+254del
XM_011513995.1:c.1254+242_1254+254del	XP_011512297.1:n.1254+242_1254+254del
XM_011513996.1:c.979-9817_979-9805del	XP_011512298.1:n.979-9817_979-9805del
XM_011513997.1:c.1254+242_1254+254del	XP_011512299.1:n.1254+242_1254+254del
NM_178140.3:c.1254+242_1254+254del	NP_835260.2:n.1254+242_1254+254del
XM_005248269.4:c.1254+242_1254+254del	XP_005248326.1:n.1254+242_1254+254del
XM_005248272.4:c.732+242_732+254del	XP_005248329.1:n.732+242_732+254del
XM_011513992.2:c.1254+242_1254+254del	XP_011512294.1:n.1254+242_1254+254del
XM_011513993.2:c.1254+242_1254+254del	XP_011512295.1:n.1254+242_1254+254del
XM_011513994.2:c.1254+242_1254+254del	XP_011512296.1:n.1254+242_1254+254del
XM_011513995.2:c.1254+242_1254+254del	XP_011512297.1:n.1254+242_1254+254del
XM_011513996.2:c.979-9817_979-9805del	XP_011512298.1:n.979-9817_979-9805del
XM_017009245.1:c.457-9817_457-9805del	XP_016864734.1:n.457-9817_457-9805del
XM_017009246.1:c.261+242_261+254del	XP_016864735.1:n.261+242_261+254del
NM_178140.4:c.1254+242_1254+254del MANE Select	NP_835260.2:n.1254+242_1254+254del