Canonical Allele Identifier: CA2725412524

Gene: PDE6H

Linked Data

• dbSNP Id: rs2120826403

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978017_14978020del , CM000674.2:g.14978017_14978020del	GRCh38
NC_000012.11:g.15130951_15130954del , CM000674.1:g.15130951_15130954del	GRCh37
NC_000012.10:g.15022218_15022221del	NCBI36
NG_016859.1:g.9996_9999del

Transcript Alleles

HGVS	Amino-acid change
ENST00000266395.3:c.5_8del MANE Select	ENSP00000266395.2:p.Ser2ThrfsTer?
ENST00000266395.2:c.5_8del	ENSP00000266395.2:p.Ser2ThrfsTer?
NM_006205.2:c.5_8del	NP_006196.1:p.Ser2ThrfsTer?
XR_931376.1:n.175+11470_175+11473del
XM_017019431.2:c.5_8del	XP_016874920.1:p.Ser2ThrfsTer?
XR_931376.2:n.389+11470_389+11473del
NM_006205.3:c.5_8del MANE Select	NP_006196.1:p.Ser2ThrfsTer?