Canonical Allele Identifier: CA2617795819
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977851del , CM000674.2:g.14977851del GRCh38
NC_000012.11:g.15130785del , CM000674.1:g.15130785del GRCh37
NC_000012.10:g.15022052del NCBI36
NG_016859.1:g.9830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-121del MANE Select ENSP00000266395.2:n.-41-121del
ENST00000266395.2:c.-41-121del ENSP00000266395.2:n.-41-121del
NM_006205.2:c.-41-121del NP_006196.1:n.-41-121del
XR_931376.1:n.175+11637del
XM_017019431.2:c.-162del XP_016874920.1:n.-162del
XR_931376.2:n.389+11637del
NM_006205.3:c.-41-121del MANE Select NP_006196.1:n.-41-121del