Canonical Allele Identifier: CA891862722

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231737190_231737191insC , CM000664.2:g.231737190_231737191insC	GRCh38
NC_000002.11:g.232601900_232601901insC , CM000664.1:g.232601900_232601901insC	GRCh37
NC_000002.10:g.232310144_232310145insC	NCBI36
NG_034064.1:g.49137_49138insG

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.367_368insG MANE Select	NP_002592.1:p.Leu123CysfsTer13
ENST00000287600.9:c.367_368insG MANE Select	ENSP00000287600.4:p.Leu123CysfsTer13
NM_001291018.1:c.265+822_265+823insG	NP_001277947.1:n.265+822_265+823insG
NM_001291018.2:c.265+822_265+823insG	NP_001277947.1:n.265+822_265+823insG
NM_002601.3:c.367_368insG	NP_002592.1:p.Leu123CysfsTer13
ENST00000287600.8:c.367_368insG	ENSP00000287600.4:p.Leu123CysfsTer13
ENST00000409772.5:c.265+822_265+823insG	ENSP00000387108.1:n.265+822_265+823insG
ENST00000428104.2:c.310_311insG	ENSP00000399098.2:p.Leu104CysfsTer?
XM_011511342.1:c.310_311insG	XP_011509644.1:p.Leu104CysfsTer13