Canonical Allele Identifier: CA2781156163
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667157_86667158del , CM000670.2:g.86667157_86667158del GRCh38
NC_000008.10:g.87679385_87679386del , CM000670.1:g.87679385_87679386del GRCh37
NC_000008.9:g.87748501_87748502del NCBI36
NG_016980.1:g.81518_81519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.644-25_644-24del MANE Select ENSP00000316605.5:n.644-25_644-24del
ENST00000681746.1:c.644-25_644-24del ENSP00000505959.1:n.644-25_644-24del
ENST00000320005.5:c.644-25_644-24del ENSP00000316605.5:n.644-25_644-24del
NM_019098.4:c.644-25_644-24del NP_061971.3:n.644-25_644-24del
XM_011517138.1:c.230-25_230-24del XP_011515440.1:n.230-25_230-24del
XM_011517138.2:c.230-25_230-24del XP_011515440.1:n.230-25_230-24del
NM_019098.5:c.644-25_644-24del MANE Select NP_061971.3:n.644-25_644-24del
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