Canonical Allele Identifier: CA2794650862
Gene: PDE6H HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978127_14978128insA , CM000674.2:g.14978127_14978128insA GRCh38
NC_000012.11:g.15131061_15131062insA , CM000674.1:g.15131061_15131062insA GRCh37
NC_000012.10:g.15022328_15022329insA NCBI36
NG_016859.1:g.10106_10107insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.115_116insA MANE Select ENSP00000266395.2:p.Pro39HisfsTer11
ENST00000266395.2:c.115_116insA ENSP00000266395.2:p.Pro39HisfsTer11
NM_006205.2:c.115_116insA NP_006196.1:p.Pro39HisfsTer11
XR_931376.1:n.175+11359_175+11360insT
XM_017019431.2:c.115_116insA XP_016874920.1:p.Pro39HisfsTer11
XR_931376.2:n.389+11359_389+11360insT
NM_006205.3:c.115_116insA MANE Select NP_006196.1:p.Pro39HisfsTer11
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