Canonical Allele Identifier: CA2502915846
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575995_86575996insAATCAC , CM000670.2:g.86575995_86575996insAATCAC GRCh38
NC_000008.10:g.87588223_87588224insAATCAC , CM000670.1:g.87588223_87588224insAATCAC GRCh37
NC_000008.9:g.87657339_87657340insAATCAC NCBI36
NG_016980.1:g.172681_172682insTGATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2239_2240insTGATTG MANE Select ENSP00000316605.5:p.Pro746_Glu747insValIle
ENST00000681546.1:n.2059_2060insTGATTG
ENST00000681746.1:c.*650_*651insTGATTG ENSP00000505959.1:n.*650_*651insTGATTG
ENST00000320005.5:c.2239_2240insTGATTG ENSP00000316605.5:p.Pro746_Glu747insValIle
ENST00000517327.5:c.276+2694_276+2695insTGATTG ENSP00000428329.1:n.276+2694_276+2695insTGATTG
NM_019098.4:c.2239_2240insTGATTG NP_061971.3:p.Pro746_Glu747insValIle
XM_011517138.1:c.1825_1826insTGATTG XP_011515440.1:p.Pro608_Glu609insValIle
XM_011517138.2:c.1825_1826insTGATTG XP_011515440.1:p.Pro608_Glu609insValIle
NM_019098.5:c.2239_2240insTGATTG MANE Select NP_061971.3:p.Pro746_Glu747insValIle
Search 100 bp 5'
Search 100 bp 3'