Canonical Allele Identifier: CA2617795900

Gene: PDE6H

Linked Data

• gnomAD v4: 12-14977923-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977924del , CM000674.2:g.14977924del	GRCh38
NC_000012.11:g.15130858del , CM000674.1:g.15130858del	GRCh37
NC_000012.10:g.15022125del	NCBI36
NG_016859.1:g.9903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.-41-48del MANE Select	ENSP00000266395.2:n.-41-48del
ENST00000266395.2:c.-41-48del	ENSP00000266395.2:n.-41-48del
NM_006205.2:c.-41-48del	NP_006196.1:n.-41-48del
XR_931376.1:n.175+11563del
XM_017019431.2:c.-89del	XP_016874920.1:n.-89del
XR_931376.2:n.389+11563del
NM_006205.3:c.-41-48del MANE Select	NP_006196.1:n.-41-48del