Canonical Allele Identifier: CA1799829051

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823837989

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670601_86670604del , CM000670.2:g.86670601_86670604del	GRCh38
NC_000008.10:g.87682829_87682832del , CM000670.1:g.87682829_87682832del	GRCh37
NC_000008.9:g.87751945_87751948del	NCBI36
NG_016980.1:g.78074_78077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+342_493+345del MANE Select	ENSP00000316605.5:n.493+342_493+345del
ENST00000680314.1:n.254+342_254+345del
ENST00000681746.1:c.493+342_493+345del	ENSP00000505959.1:n.493+342_493+345del
ENST00000320005.5:c.493+342_493+345del	ENSP00000316605.5:n.493+342_493+345del
NM_019098.4:c.493+342_493+345del	NP_061971.3:n.493+342_493+345del
XM_011517138.1:c.79+342_79+345del	XP_011515440.1:n.79+342_79+345del
XM_011517138.2:c.79+342_79+345del	XP_011515440.1:n.79+342_79+345del
NM_019098.5:c.493+342_493+345del MANE Select	NP_061971.3:n.493+342_493+345del