Canonical Allele Identifier: CA2580065998

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231737216del , CM000664.2:g.231737216del	GRCh38
NC_000002.11:g.232601926del , CM000664.1:g.232601926del	GRCh37
NC_000002.10:g.232310170del	NCBI36
NG_034064.1:g.49112del

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.342del MANE Select	NP_002592.1:p.Glu114AspfsTer4
ENST00000287600.9:c.342del MANE Select	ENSP00000287600.4:p.Glu114AspfsTer4
NM_001291018.1:c.265+797del	NP_001277947.1:n.265+797del
NM_001291018.2:c.265+797del	NP_001277947.1:n.265+797del
NM_002601.3:c.342del	NP_002592.1:p.Glu114AspfsTer4
ENST00000287600.8:c.342del	ENSP00000287600.4:p.Glu114AspfsTer4
ENST00000409772.5:c.265+797del	ENSP00000387108.1:n.265+797del
ENST00000428104.2:c.285del	ENSP00000399098.2:p.Glu95AspfsTer4
XM_011511342.1:c.285del	XP_011509644.1:p.Glu95AspfsTer4