Canonical Allele Identifier: CA2781154209
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576073_86576074insAGA , CM000670.2:g.86576073_86576074insAGA GRCh38
NC_000008.10:g.87588301_87588302insAGA , CM000670.1:g.87588301_87588302insAGA GRCh37
NC_000008.9:g.87657417_87657418insAGA NCBI36
NG_016980.1:g.172602_172603insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2160_2161insTCT MANE Select ENSP00000316605.5:p.Gln720_Lys721insSer
ENST00000681546.1:n.1980_1981insTCT
ENST00000681746.1:c.*571_*572insTCT ENSP00000505959.1:n.*571_*572insTCT
ENST00000320005.5:c.2160_2161insTCT ENSP00000316605.5:p.Gln720_Lys721insSer
ENST00000517327.5:c.276+2615_276+2616insTCT ENSP00000428329.1:n.276+2615_276+2616insTCT
NM_019098.4:c.2160_2161insTCT NP_061971.3:p.Gln720_Lys721insSer
XM_011517138.1:c.1746_1747insTCT XP_011515440.1:p.Gln582_Lys583insSer
XM_011517138.2:c.1746_1747insTCT XP_011515440.1:p.Gln582_Lys583insSer
NM_019098.5:c.2160_2161insTCT MANE Select NP_061971.3:p.Gln720_Lys721insSer
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