Canonical Allele Identifier: CA233311854
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs921025869
gnomAD v3: 12-14977946-CT-C
gnomAD v4: 12-14977946-CT-C
COSMIC: COSN18736315 COSN18736409
MyVariant Identifiers: chr12:g.15130881del (hg19) chr12:g.14977947del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977954del , CM000674.2:g.14977954del GRCh38
NC_000012.11:g.15130888del , CM000674.1:g.15130888del GRCh37
NC_000012.10:g.15022155del NCBI36
NG_016859.1:g.9933del

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-18del MANE Select ENSP00000266395.2:n.-41-18del
ENST00000266395.2:c.-41-18del ENSP00000266395.2:n.-41-18del
NM_006205.2:c.-41-18del NP_006196.1:n.-41-18del
XR_931376.1:n.175+11540del
XM_017019431.2:c.-59del XP_016874920.1:n.-59del
XR_931376.2:n.389+11540del
NM_006205.3:c.-41-18del MANE Select NP_006196.1:n.-41-18del
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