Canonical Allele Identifier: CA2781154143
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575986_86575987insACA , CM000670.2:g.86575986_86575987insACA GRCh38
NC_000008.10:g.87588214_87588215insACA , CM000670.1:g.87588214_87588215insACA GRCh37
NC_000008.9:g.87657330_87657331insACA NCBI36
NG_016980.1:g.172689_172690insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2247_2248insTGT MANE Select ENSP00000316605.5:p.Lys749_Pro750insCys
ENST00000681546.1:n.2067_2068insTGT
ENST00000681746.1:c.*658_*659insTGT ENSP00000505959.1:n.*658_*659insTGT
ENST00000320005.5:c.2247_2248insTGT ENSP00000316605.5:p.Lys749_Pro750insCys
ENST00000517327.5:c.276+2702_276+2703insTGT ENSP00000428329.1:n.276+2702_276+2703insTGT
NM_019098.4:c.2247_2248insTGT NP_061971.3:p.Lys749_Pro750insCys
XM_011517138.1:c.1833_1834insTGT XP_011515440.1:p.Lys611_Pro612insCys
XM_011517138.2:c.1833_1834insTGT XP_011515440.1:p.Lys611_Pro612insCys
NM_019098.5:c.2247_2248insTGT MANE Select NP_061971.3:p.Lys749_Pro750insCys
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