Canonical Allele Identifier: CA2669419688

Gene: PDE6B

Linked Data

• gnomAD v4: 4-660597-TCCAGATCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660602_660610del , CM000666.2:g.660602_660610del	GRCh38
NC_000004.11:g.654391_654399del , CM000666.1:g.654391_654399del	GRCh37
NC_000004.10:g.644391_644399del	NCBI36
NG_009839.1:g.40029_40037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1603_1611del MANE Select	ENSP00000420295.1:p.Ile535_Gln537del
ENST00000255622.10:c.1603_1611del	ENSP00000255622.6:p.Ile535_Gln537del
ENST00000429163.6:c.766_774del	ENSP00000406334.2:p.Ile256_Gln258del
ENST00000496514.5:c.1603_1611del	ENSP00000420295.1:p.Ile535_Gln537del
NM_000283.3:c.1603_1611del	NP_000274.2:p.Ile535_Gln537del
NM_001145291.1:c.1603_1611del	NP_001138763.1:p.Ile535_Gln537del
NM_001145292.1:c.766_774del	NP_001138764.1:p.Ile256_Gln258del
XM_011513473.1:c.1822_1830del	XP_011511775.1:p.Ile608_Gln610del
XM_011513474.1:c.1822_1830del	XP_011511776.1:p.Ile608_Gln610del
XM_011513475.1:c.1603_1611del	XP_011511777.1:p.Ile535_Gln537del
XM_011513476.1:c.1822_1830del	XP_011511778.1:p.Ile608_Gln610del
XM_011513477.1:c.808_816del	XP_011511779.1:p.Ile270_Gln272del
XM_011513478.1:c.532_540del	XP_011511780.1:p.Ile178_Gln180del
NM_001350154.1:c.766_774del	NP_001337083.1:p.Ile256_Gln258del
NM_001350155.1:c.448_456del	NP_001337084.1:p.Ile150_Gln152del
XM_011513473.3:c.1822_1830del	XP_011511775.1:p.Ile608_Gln610del
XM_011513474.3:c.1822_1830del	XP_011511776.1:p.Ile608_Gln610del
XM_011513475.2:c.1603_1611del	XP_011511777.1:p.Ile535_Gln537del
XM_011513476.3:c.1822_1830del	XP_011511778.1:p.Ile608_Gln610del
XM_011513478.2:c.532_540del	XP_011511780.1:p.Ile178_Gln180del
XM_017008284.1:c.766_774del	XP_016863773.1:p.Ile256_Gln258del
XM_017008285.1:c.766_774del	XP_016863774.1:p.Ile256_Gln258del
XM_017008286.1:c.766_774del	XP_016863775.1:p.Ile256_Gln258del
NM_001350154.2:c.766_774del	NP_001337083.1:p.Ile256_Gln258del
NM_001350155.2:c.448_456del	NP_001337084.1:p.Ile150_Gln152del
NM_000283.4:c.1603_1611del MANE Select	NP_000274.3:p.Ile535_Gln537del
NM_001145291.2:c.1603_1611del	NP_001138763.2:p.Ile535_Gln537del
NM_001145292.2:c.766_774del	NP_001138764.2:p.Ile256_Gln258del
NM_001350154.3:c.766_774del	NP_001337083.1:p.Ile256_Gln258del
NM_001350155.3:c.448_456del	NP_001337084.1:p.Ile150_Gln152del
NM_001379246.1:c.766_774del	NP_001366175.1:p.Ile256_Gln258del
NM_001379247.1:c.766_774del	NP_001366176.1:p.Ile256_Gln258del