Canonical Allele Identifier: CA2794650864
Gene: PDE6H HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978137_14978138insACT , CM000674.2:g.14978137_14978138insACT GRCh38
NC_000012.11:g.15131071_15131072insACT , CM000674.1:g.15131071_15131072insACT GRCh37
NC_000012.10:g.15022338_15022339insACT NCBI36
NG_016859.1:g.10116_10117insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.125_126insACT MANE Select ENSP00000266395.2:p.Gly42_Val43insLeu
ENST00000266395.2:c.125_126insACT ENSP00000266395.2:p.Gly42_Val43insLeu
NM_006205.2:c.125_126insACT NP_006196.1:p.Gly42_Val43insLeu
XR_931376.1:n.175+11349_175+11350insAGT
XM_017019431.2:c.125_126insACT XP_016874920.1:p.Gly42_Val43insLeu
XR_931376.2:n.389+11349_389+11350insAGT
NM_006205.3:c.125_126insACT MANE Select NP_006196.1:p.Gly42_Val43insLeu
Search 100 bp 5'
Search 100 bp 3'