Canonical Allele Identifier: CA91086971

Gene: PDE6B

Linked Data

• dbSNP Id: rs949612208
• gnomAD v2: 4-653857-CAT-C
• gnomAD v3: 4-660068-CAT-C
• gnomAD v4: 4-660068-CAT-C
• MyVariant Identifiers: chr4:g.653858_653859del (hg19) ; chr4:g.660069_660070del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660069_660070del , CM000666.2:g.660069_660070del	GRCh38
NC_000004.11:g.653858_653859del , CM000666.1:g.653858_653859del	GRCh37
NC_000004.10:g.643858_643859del	NCBI36
NG_009839.1:g.39496_39497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1468-398_1468-397del MANE Select	ENSP00000420295.1:n.1468-398_1468-397del
ENST00000255622.10:c.1468-398_1468-397del	ENSP00000255622.6:n.1468-398_1468-397del
ENST00000429163.6:c.631-398_631-397del	ENSP00000406334.2:n.631-398_631-397del
ENST00000496514.5:c.1468-398_1468-397del	ENSP00000420295.1:n.1468-398_1468-397del
NM_000283.3:c.1468-398_1468-397del	NP_000274.2:n.1468-398_1468-397del
NM_001145291.1:c.1468-398_1468-397del	NP_001138763.1:n.1468-398_1468-397del
NM_001145292.1:c.631-398_631-397del	NP_001138764.1:n.631-398_631-397del
XM_011513473.1:c.1687-398_1687-397del	XP_011511775.1:n.1687-398_1687-397del
XM_011513474.1:c.1687-398_1687-397del	XP_011511776.1:n.1687-398_1687-397del
XM_011513475.1:c.1468-398_1468-397del	XP_011511777.1:n.1468-398_1468-397del
XM_011513476.1:c.1687-398_1687-397del	XP_011511778.1:n.1687-398_1687-397del
XM_011513477.1:c.673-398_673-397del	XP_011511779.1:n.673-398_673-397del
XM_011513478.1:c.397-398_397-397del	XP_011511780.1:n.397-398_397-397del
NM_001350154.1:c.631-398_631-397del	NP_001337083.1:n.631-398_631-397del
NM_001350155.1:c.313-398_313-397del	NP_001337084.1:n.313-398_313-397del
XM_011513473.3:c.1687-398_1687-397del	XP_011511775.1:n.1687-398_1687-397del
XM_011513474.3:c.1687-398_1687-397del	XP_011511776.1:n.1687-398_1687-397del
XM_011513475.2:c.1468-398_1468-397del	XP_011511777.1:n.1468-398_1468-397del
XM_011513476.3:c.1687-398_1687-397del	XP_011511778.1:n.1687-398_1687-397del
XM_011513478.2:c.397-398_397-397del	XP_011511780.1:n.397-398_397-397del
XM_017008284.1:c.631-398_631-397del	XP_016863773.1:n.631-398_631-397del
XM_017008285.1:c.631-398_631-397del	XP_016863774.1:n.631-398_631-397del
XM_017008286.1:c.631-398_631-397del	XP_016863775.1:n.631-398_631-397del
NM_001350154.2:c.631-398_631-397del	NP_001337083.1:n.631-398_631-397del
NM_001350155.2:c.313-398_313-397del	NP_001337084.1:n.313-398_313-397del
NM_000283.4:c.1468-398_1468-397del MANE Select	NP_000274.3:n.1468-398_1468-397del
NM_001145291.2:c.1468-398_1468-397del	NP_001138763.2:n.1468-398_1468-397del
NM_001145292.2:c.631-398_631-397del	NP_001138764.2:n.631-398_631-397del
NM_001350154.3:c.631-398_631-397del	NP_001337083.1:n.631-398_631-397del
NM_001350155.3:c.313-398_313-397del	NP_001337084.1:n.313-398_313-397del
NM_001379246.1:c.631-398_631-397del	NP_001366175.1:n.631-398_631-397del
NM_001379247.1:c.631-398_631-397del	NP_001366176.1:n.631-398_631-397del