Canonical Allele Identifier: CA2575088698
Gene: PDE6H HGNC NCBI

Linked Data

gnomAD v4: 12-14977999-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978005del , CM000674.2:g.14978005del GRCh38
NC_000012.11:g.15130939del , CM000674.1:g.15130939del GRCh37
NC_000012.10:g.15022206del NCBI36
NG_016859.1:g.9984del

Transcript Alleles

HGVS Amino-acid change
ENST00000266395.3:c.-8del MANE Select ENSP00000266395.2:n.-8del
ENST00000266395.2:c.-8del ENSP00000266395.2:n.-8del
NM_006205.2:c.-8del NP_006196.1:n.-8del
XR_931376.1:n.175+11487del
XM_017019431.2:c.-8del XP_016874920.1:n.-8del
XR_931376.2:n.389+11487del
NM_006205.3:c.-8del MANE Select NP_006196.1:n.-8del
Search 100 bp 5'
Search 100 bp 3'