Canonical Allele Identifier: CA1793577
Gene: CNGA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500999
ClinVar RCV Id: RCV000594944
dbSNP Id: rs755957184
ExAC: 2:98994156 CTCG / C
gnomAD v2: 2-98994156-CTCG-C
gnomAD v3: 2-98377693-CTCG-C
gnomAD v4: 2-98377693-CTCG-C
MyVariant Identifiers: chr2:g.98994159_98994161del (hg19) chr2:g.98994157_98994159del (hg19) chr2:g.98377696_98377698del (hg38) chr2:g.98377694_98377696del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98377696_98377698del , CM000664.2:g.98377696_98377698del GRCh38
NC_000002.11:g.98994159_98994161del , CM000664.1:g.98994159_98994161del GRCh37
NC_000002.10:g.98360591_98360593del NCBI36
NG_009097.1:g.36542_36544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.111_113del MANE Select ENSP00000272602.2:p.Ser38del
ENST00000272602.6:c.111_113del ENSP00000272602.2:p.Ser38del
ENST00000393504.5:c.111_113del ENSP00000377140.1:p.Ser38del
ENST00000409937.1:c.-43_-41del ENSP00000386761.1:n.-43_-41del
ENST00000436404.6:c.111_113del ENSP00000410070.2:p.Ser38del
NM_001079878.1:c.111_113del NP_001073347.1:p.Ser38del
NM_001298.2:c.111_113del NP_001289.1:p.Ser38del
XM_006712243.2:c.111_113del XP_006712306.1:p.Ser38del
XM_011510554.1:c.111_113del XP_011508856.1:p.Ser38del
XM_011510554.2:c.111_113del XP_011508856.1:p.Ser38del
NM_001079878.2:c.111_113del NP_001073347.1:p.Ser38del
NM_001298.3:c.111_113del MANE Select NP_001289.1:p.Ser38del
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