Canonical Allele Identifier: CA2781156158
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667150_86667151insA , CM000670.2:g.86667150_86667151insA GRCh38
NC_000008.10:g.87679378_87679379insA , CM000670.1:g.87679378_87679379insA GRCh37
NC_000008.9:g.87748494_87748495insA NCBI36
NG_016980.1:g.81525_81526insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.644-18_644-17insT MANE Select ENSP00000316605.5:n.644-18_644-17insT
ENST00000681746.1:c.644-18_644-17insT ENSP00000505959.1:n.644-18_644-17insT
ENST00000320005.5:c.644-18_644-17insT ENSP00000316605.5:n.644-18_644-17insT
NM_019098.4:c.644-18_644-17insT NP_061971.3:n.644-18_644-17insT
XM_011517138.1:c.230-18_230-17insT XP_011515440.1:n.230-18_230-17insT
XM_011517138.2:c.230-18_230-17insT XP_011515440.1:n.230-18_230-17insT
NM_019098.5:c.644-18_644-17insT MANE Select NP_061971.3:n.644-18_644-17insT
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