Canonical Allele Identifier: CA2781156503
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671177_86671178insACA , CM000670.2:g.86671177_86671178insACA GRCh38
NC_000008.10:g.87683405_87683406insACA , CM000670.1:g.87683405_87683406insACA GRCh37
NC_000008.9:g.87752521_87752522insACA NCBI36
NG_016980.1:g.77498_77499insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-80_339-79insTGT MANE Select ENSP00000316605.5:n.339-80_339-79insTGT
ENST00000680314.1:n.100-80_100-79insTGT
ENST00000681746.1:c.339-80_339-79insTGT ENSP00000505959.1:n.339-80_339-79insTGT
ENST00000320005.5:c.339-80_339-79insTGT ENSP00000316605.5:n.339-80_339-79insTGT
NM_019098.4:c.339-80_339-79insTGT NP_061971.3:n.339-80_339-79insTGT
XM_011517138.1:c.-76-80_-76-79insTGT XP_011515440.1:n.-76-80_-76-79insTGT
XM_011517138.2:c.-76-80_-76-79insTGT XP_011515440.1:n.-76-80_-76-79insTGT
NM_019098.5:c.339-80_339-79insTGT MANE Select NP_061971.3:n.339-80_339-79insTGT