Canonical Allele Identifier: CA133622
Gene: PDZD7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101010783del , CM000672.2:g.101010783del GRCh38
NC_000010.10:g.102770540del , CM000672.1:g.102770540del GRCh37
NC_000010.9:g.102760530del NCBI36
NG_028030.1:g.25376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474125.7:c.*2054del ENSP00000474447.1:n.*2054del
ENST00000619208.6:c.2107del MANE Select ENSP00000480489.1:p.Ser703ValfsTer20
ENST00000474125.6:c.*2054del ENSP00000474447.1:n.*2054del
ENST00000619208.4:c.2107del ENSP00000480489.1:p.Ser703ValfsTer20
NM_001195263.1:c.2107del NP_001182192.1:p.Ser703ValfsTer20
XM_011540177.1:c.2107del XP_011538479.1:p.Ser703ValfsTer20
XM_011540178.1:c.2104del XP_011538480.1:p.Ser702ValfsTer20
XM_011540179.1:c.*69del XP_011538481.1:n.*69del
XM_011540177.3:c.2107del XP_011538479.1:p.Ser703ValfsTer20
XM_011540178.3:c.2104del XP_011538480.1:p.Ser702ValfsTer20
XM_011540179.3:c.*69del XP_011538481.1:n.*69del
NM_001195263.2:c.2107del MANE Select NP_001182192.1:p.Ser703ValfsTer20
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