Canonical Allele Identifier: CA2497340479
Gene: PDE6H HGNC NCBI

Linked Data

dbSNP Id: rs1864622928

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14978037_14978060del , CM000674.2:g.14978037_14978060del GRCh38
NC_000012.11:g.15130971_15130994del , CM000674.1:g.15130971_15130994del GRCh37
NC_000012.10:g.15022238_15022261del NCBI36
NG_016859.1:g.10016_10039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.25_48del MANE Select ENSP00000266395.2:p.Ala9_Pro16del
ENST00000266395.2:c.25_48del ENSP00000266395.2:p.Ala9_Pro16del
NM_006205.2:c.25_48del NP_006196.1:p.Ala9_Pro16del
XR_931376.1:n.175+11430_175+11453del
XM_017019431.2:c.25_48del XP_016874920.1:p.Ala9_Pro16del
XR_931376.2:n.389+11430_389+11453del
NM_006205.3:c.25_48del MANE Select NP_006196.1:p.Ala9_Pro16del