Canonical Allele Identifier: CA2566320639
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632821_86632823del , CM000670.2:g.86632821_86632823del GRCh38
NC_000008.10:g.87645049_87645051del , CM000670.1:g.87645049_87645051del GRCh37
NC_000008.9:g.87714165_87714167del NCBI36
NG_016980.1:g.115855_115857del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1251_1253del MANE Select ENSP00000316605.5:p.Leu417del
ENST00000681546.1:n.1071_1073del
ENST00000681746.1:c.1251_1253del ENSP00000505959.1:p.Leu417del
ENST00000320005.5:c.1251_1253del ENSP00000316605.5:p.Leu417del
NM_019098.4:c.1251_1253del NP_061971.3:p.Leu417del
XM_011517138.1:c.837_839del XP_011515440.1:p.Leu279del
XM_011517138.2:c.837_839del XP_011515440.1:p.Leu279del
NM_019098.5:c.1251_1253del MANE Select NP_061971.3:p.Leu417del
Search 100 bp 5'
Search 100 bp 3'