Canonical Allele Identifier: CA2781156157
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667152_86667165del , CM000670.2:g.86667152_86667165del GRCh38
NC_000008.10:g.87679380_87679393del , CM000670.1:g.87679380_87679393del GRCh37
NC_000008.9:g.87748496_87748509del NCBI36
NG_016980.1:g.81513_81526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.644-30_644-17del MANE Select ENSP00000316605.5:n.644-30_644-17del
ENST00000681746.1:c.644-30_644-17del ENSP00000505959.1:n.644-30_644-17del
ENST00000320005.5:c.644-30_644-17del ENSP00000316605.5:n.644-30_644-17del
NM_019098.4:c.644-30_644-17del NP_061971.3:n.644-30_644-17del
XM_011517138.1:c.230-30_230-17del XP_011515440.1:n.230-30_230-17del
XM_011517138.2:c.230-30_230-17del XP_011515440.1:n.230-30_230-17del
NM_019098.5:c.644-30_644-17del MANE Select NP_061971.3:n.644-30_644-17del
Search 100 bp 5'
Search 100 bp 3'