Canonical Allele Identifier: CA2794650866

Gene: PDE6H

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14978154_14978155del , CM000674.2:g.14978154_14978155del	GRCh38
NC_000012.11:g.15131088_15131089del , CM000674.1:g.15131088_15131089del	GRCh37
NC_000012.10:g.15022355_15022356del	NCBI36
NG_016859.1:g.10133_10134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266395.3:c.134+8_134+9del MANE Select	ENSP00000266395.2:n.134+8_134+9del
ENST00000266395.2:c.134+8_134+9del	ENSP00000266395.2:n.134+8_134+9del
NM_006205.2:c.134+8_134+9del	NP_006196.1:n.134+8_134+9del
XR_931376.1:n.175+11332_175+11333del
XM_017019431.2:c.134+8_134+9del	XP_016874920.1:n.134+8_134+9del
XR_931376.2:n.389+11332_389+11333del
NM_006205.3:c.134+8_134+9del MANE Select	NP_006196.1:n.134+8_134+9del