Canonical Allele Identifier: CA233311837
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs962383070
gnomAD v2: 12-15130875-ATCT-A
gnomAD v3: 12-14977941-ATCT-A
gnomAD v4: 12-14977941-ATCT-A
MyVariant Identifiers: chr12:g.15130876_15130878del (hg19) chr12:g.14977942_14977944del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977946_14977948del , CM000674.2:g.14977946_14977948del GRCh38
NC_000012.11:g.15130880_15130882del , CM000674.1:g.15130880_15130882del GRCh37
NC_000012.10:g.15022147_15022149del NCBI36
NG_016859.1:g.9925_9927del

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-41-26_-41-24del MANE Select ENSP00000266395.2:n.-41-26_-41-24del
ENST00000266395.2:c.-41-26_-41-24del ENSP00000266395.2:n.-41-26_-41-24del
NM_006205.2:c.-41-26_-41-24del NP_006196.1:n.-41-26_-41-24del
XR_931376.1:n.175+11543_175+11545del
XM_017019431.2:c.-67_-65del XP_016874920.1:n.-67_-65del
XR_931376.2:n.389+11543_389+11545del
NM_006205.3:c.-41-26_-41-24del MANE Select NP_006196.1:n.-41-26_-41-24del
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