Canonical Allele Identifier: CA945034599
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864622864
gnomAD v3: 12-14978033-G-GCCTGCTCCAGCTT
gnomAD v4: 12-14978033-G-GCCTGCTCCAGCTT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978035_14978047dup , CM000674.2:g.14978035_14978047dup GRCh38
NC_000012.11:g.15130969_15130981dup , CM000674.1:g.15130969_15130981dup GRCh37
NC_000012.10:g.15022236_15022248dup NCBI36
NG_016859.1:g.10014_10026dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.23_35dup MANE Select ENSP00000266395.2:p.Asn13CysfsTer29
ENST00000266395.2:c.23_35dup ENSP00000266395.2:p.Asn13CysfsTer29
NM_006205.2:c.23_35dup NP_006196.1:p.Asn13CysfsTer29
XR_931376.1:n.175+11441_175+11453dup
XM_017019431.2:c.23_35dup XP_016874920.1:p.Asn13CysfsTer29
XR_931376.2:n.389+11441_389+11453dup
NM_006205.3:c.23_35dup MANE Select NP_006196.1:p.Asn13CysfsTer29
Search 100 bp 5'
Search 100 bp 3'