Canonical Allele Identifier: CA645560111

Gene: PDZD7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101030060del , CM000672.2:g.101030060del	GRCh38
NC_000010.10:g.102789817del , CM000672.1:g.102789817del	GRCh37
NC_000010.9:g.102779807del	NCBI36
NG_028030.1:g.6104del

Transcript Alleles

HGVS	Amino-acid Change
NM_001195263.2:c.166del MANE Select	NP_001182192.1:p.Arg56AlafsTer?
ENST00000619208.6:c.166del MANE Select	ENSP00000480489.1:p.Arg56AlafsTer?
NM_001195263.1:c.166del	NP_001182192.1:p.Arg56AlafsTer?
NM_001351044.1:c.166del	NP_001337973.1:p.Arg56AlafsTer?
NM_001351044.2:c.166del	NP_001337973.1:p.Arg56AlafsTer?
NM_024895.4:c.166del	NP_079171.1:p.Arg56AlafsTer?
NM_024895.5:c.166del	NP_079171.1:p.Arg56AlafsTer?
ENST00000370215.7:c.166del	ENSP00000359234.3:p.Arg56AlafsTer?
ENST00000470414.1:c.166del	ENSP00000474831.1:p.Arg56AlafsTer?
ENST00000474125.6:c.166del	ENSP00000474447.1:p.Arg56AlafsTer?
ENST00000474125.7:c.166del	ENSP00000474447.1:p.Arg56AlafsTer?
ENST00000476306.1:n.77del
ENST00000619208.4:c.166del	ENSP00000480489.1:p.Arg56AlafsTer?
ENST00000644576.1:c.166del	ENSP00000495417.1:p.Arg56AlafsTer?
ENST00000644782.1:c.166del	ENSP00000496747.1:p.Arg56AlafsTer?
ENST00000645349.1:c.166del	ENSP00000495283.1:p.Arg56AlafsTer?
XM_005270165.1:c.166del	XP_005270222.1:p.Arg56AlafsTer?
XM_005270165.3:c.166del	XP_005270222.1:p.Arg56AlafsTer?
XM_011540177.1:c.166del	XP_011538479.1:p.Arg56AlafsTer?
XM_011540177.3:c.166del	XP_011538479.1:p.Arg56AlafsTer?
XM_011540178.1:c.166del	XP_011538480.1:p.Arg56AlafsTer?
XM_011540178.3:c.166del	XP_011538480.1:p.Arg56AlafsTer?
XM_011540179.1:c.166del	XP_011538481.1:p.Arg56AlafsTer?
XM_011540179.3:c.166del	XP_011538481.1:p.Arg56AlafsTer?
XM_011540180.1:c.166del	XP_011538482.1:p.Arg56AlafsTer?
XM_011540181.1:c.166del	XP_011538483.1:p.Arg56AlafsTer?
XM_011540181.3:c.166del	XP_011538483.1:p.Arg56AlafsTer?
XM_011540182.1:c.166del	XP_011538484.1:p.Arg56AlafsTer?
XM_011540183.1:c.166del	XP_011538485.1:p.Arg56AlafsTer?
XM_011540183.3:c.166del	XP_011538485.1:p.Arg56AlafsTer?
XM_017016667.2:c.166del	XP_016872156.1:p.Arg56AlafsTer?
XM_017016668.2:c.166del	XP_016872157.1:p.Arg56AlafsTer?
XR_001747203.2:n.404del
XR_945815.1:n.414del
XR_945816.1:n.414del
XR_945816.3:n.404del