Canonical Allele Identifier: CA1273419649
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98395830_98395833delinsATCT , CM000664.2:g.98395830_98395833delinsATCT GRCh38
NC_000002.11:g.99012293_99012296delinsATCT , CM000664.1:g.99012293_99012296delinsATCT GRCh37
NC_000002.10:g.98378725_98378728delinsATCT NCBI36
NG_009097.1:g.54676_54679delinsATCT

Transcript Alleles

HGVS Amino-acid change
ENST00000272602.7:c.674-14_674-11delinsATCT MANE Select ENSP00000272602.2:n.674-14_674-11delinsATCT
ENST00000272602.6:c.674-14_674-11delinsATCT ENSP00000272602.2:n.674-14_674-11delinsATCT
ENST00000393504.5:c.674-14_674-11delinsATCT ENSP00000377140.1:n.674-14_674-11delinsATCT
ENST00000409937.1:c.686-14_686-11delinsATCT ENSP00000386761.1:n.686-14_686-11delinsATCT
ENST00000436404.6:c.620-14_620-11delinsATCT ENSP00000410070.2:n.620-14_620-11delinsATCT
NM_001079878.1:c.620-14_620-11delinsATCT NP_001073347.1:n.620-14_620-11delinsATCT
NM_001298.2:c.674-14_674-11delinsATCT NP_001289.1:n.674-14_674-11delinsATCT
XM_006712243.2:c.785-14_785-11delinsATCT XP_006712306.1:n.785-14_785-11delinsATCT
XM_011510554.1:c.839-14_839-11delinsATCT XP_011508856.1:n.839-14_839-11delinsATCT
XM_011510554.2:c.839-14_839-11delinsATCT XP_011508856.1:n.839-14_839-11delinsATCT
NM_001079878.2:c.620-14_620-11delinsATCT NP_001073347.1:n.620-14_620-11delinsATCT
NM_001298.3:c.674-14_674-11delinsATCT MANE Select NP_001289.1:n.674-14_674-11delinsATCT