Canonical Allele Identifier: CA2573135524

Gene: PDE6D

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231739174del , CM000664.2:g.231739174del	GRCh38
NC_000002.11:g.232603884del , CM000664.1:g.232603884del	GRCh37
NC_000002.10:g.232312128del	NCBI36
NG_034064.1:g.47155del

Transcript Alleles

HGVS	Amino-acid Change
NM_002601.4:c.66del MANE Select	NP_002592.1:p.Arg23GlyfsTer?
ENST00000287600.9:c.66del MANE Select	ENSP00000287600.4:p.Arg23GlyfsTer?
NM_001291018.1:c.66del	NP_001277947.1:p.Arg23GlyfsTer?
NM_001291018.2:c.66del	NP_001277947.1:p.Arg23GlyfsTer?
NM_002601.3:c.66del	NP_002592.1:p.Arg23GlyfsTer?
ENST00000287600.8:c.66del	ENSP00000287600.4:p.Arg23GlyfsTer?
ENST00000409772.5:c.66del	ENSP00000387108.1:p.Arg23GlyfsTer?
ENST00000428104.2:c.9del	ENSP00000399098.2:p.Arg4GlyfsTer?
ENST00000486044.1:n.215del
XM_011511342.1:c.9del	XP_011509644.1:p.Arg4GlyfsTer?