Canonical Allele Identifier: CA685798852
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1234917115
gnomAD v3: 12-14977963-CT-C
gnomAD v4: 12-14977963-CT-C
MyVariant Identifiers: chr12:g.15130898del (hg19) chr12:g.14977964del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977964del , CM000674.2:g.14977964del GRCh38
NC_000012.11:g.15130898del , CM000674.1:g.15130898del GRCh37
NC_000012.10:g.15022165del NCBI36
NG_016859.1:g.9943del

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-8del MANE Select ENSP00000266395.2:n.-41-8del
ENST00000266395.2:c.-41-8del ENSP00000266395.2:n.-41-8del
NM_006205.2:c.-41-8del NP_006196.1:n.-41-8del
XR_931376.1:n.175+11523del
XM_017019431.2:c.-49del XP_016874920.1:n.-49del
XR_931376.2:n.389+11523del
NM_006205.3:c.-41-8del MANE Select NP_006196.1:n.-41-8del
Search 100 bp 5'
Search 100 bp 3'