Canonical Allele Identifier: CA2781156451
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671102_86671104del , CM000670.2:g.86671102_86671104del GRCh38
NC_000008.10:g.87683330_87683332del , CM000670.1:g.87683330_87683332del GRCh37
NC_000008.9:g.87752446_87752448del NCBI36
NG_016980.1:g.77572_77574del

Transcript Alleles

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