Canonical Allele Identifier: CA809838974

Gene: PDZD2

Linked Data

• dbSNP Id: rs1438159747
• MyVariant Identifiers: chr5:g.32000602_32000615del (hg19) ; chr5:g.32000496_32000509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000499_32000512del , CM000667.2:g.32000499_32000512del	GRCh38
NC_000005.9:g.32000605_32000618del , CM000667.1:g.32000605_32000618del	GRCh37
NC_000005.8:g.32036362_32036375del	NCBI36
NG_033962.1:g.206576_206589del
NG_033962.2:g.366090_366103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1254+228_1254+241del MANE Select	ENSP00000402033.1:n.1254+228_1254+241del
ENST00000438447.1:c.1254+228_1254+241del	ENSP00000402033.1:n.1254+228_1254+241del
ENST00000502489.5:n.1010+228_1010+241del
NM_178140.2:c.1254+228_1254+241del	NP_835260.2:n.1254+228_1254+241del
XM_005248269.3:c.1254+228_1254+241del	XP_005248326.1:n.1254+228_1254+241del
XM_005248270.3:c.1254+228_1254+241del	XP_005248327.1:n.1254+228_1254+241del
XM_005248271.1:c.732+228_732+241del	XP_005248328.1:n.732+228_732+241del
XM_005248272.3:c.732+228_732+241del	XP_005248329.1:n.732+228_732+241del
XM_006714460.2:c.261+228_261+241del	XP_006714523.1:n.261+228_261+241del
XM_011513992.1:c.1254+228_1254+241del	XP_011512294.1:n.1254+228_1254+241del
XM_011513993.1:c.1254+228_1254+241del	XP_011512295.1:n.1254+228_1254+241del
XM_011513994.1:c.1254+228_1254+241del	XP_011512296.1:n.1254+228_1254+241del
XM_011513995.1:c.1254+228_1254+241del	XP_011512297.1:n.1254+228_1254+241del
XM_011513996.1:c.979-9831_979-9818del	XP_011512298.1:n.979-9831_979-9818del
XM_011513997.1:c.1254+228_1254+241del	XP_011512299.1:n.1254+228_1254+241del
NM_178140.3:c.1254+228_1254+241del	NP_835260.2:n.1254+228_1254+241del
XM_005248269.4:c.1254+228_1254+241del	XP_005248326.1:n.1254+228_1254+241del
XM_005248272.4:c.732+228_732+241del	XP_005248329.1:n.732+228_732+241del
XM_011513992.2:c.1254+228_1254+241del	XP_011512294.1:n.1254+228_1254+241del
XM_011513993.2:c.1254+228_1254+241del	XP_011512295.1:n.1254+228_1254+241del
XM_011513994.2:c.1254+228_1254+241del	XP_011512296.1:n.1254+228_1254+241del
XM_011513995.2:c.1254+228_1254+241del	XP_011512297.1:n.1254+228_1254+241del
XM_011513996.2:c.979-9831_979-9818del	XP_011512298.1:n.979-9831_979-9818del
XM_017009245.1:c.457-9831_457-9818del	XP_016864734.1:n.457-9831_457-9818del
XM_017009246.1:c.261+228_261+241del	XP_016864735.1:n.261+228_261+241del
NM_178140.4:c.1254+228_1254+241del MANE Select	NP_835260.2:n.1254+228_1254+241del