Canonical Allele Identifier: CA2497340477

Gene: PDE6H

Linked Data

• dbSNP Id: rs1864619387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14977887del , CM000674.2:g.14977887del	GRCh38
NC_000012.11:g.15130821del , CM000674.1:g.15130821del	GRCh37
NC_000012.10:g.15022088del	NCBI36
NG_016859.1:g.9866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000266395.3:c.-41-85del MANE Select	ENSP00000266395.2:n.-41-85del
ENST00000266395.2:c.-41-85del	ENSP00000266395.2:n.-41-85del
NM_006205.2:c.-41-85del	NP_006196.1:n.-41-85del
XR_931376.1:n.175+11600del
XM_017019431.2:c.-126del	XP_016874920.1:n.-126del
XR_931376.2:n.389+11600del
NM_006205.3:c.-41-85del MANE Select	NP_006196.1:n.-41-85del