Canonical Allele Identifier: CA1799868834

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632938_86632951delinsCGAAAGACCACTAT , CM000670.2:g.86632938_86632951delinsCGAAAGACCACTAT	GRCh38
NC_000008.10:g.87645166_87645179delinsCGAAAGACCACTAT , CM000670.1:g.87645166_87645179delinsCGAAAGACCACTAT	GRCh37
NC_000008.9:g.87714282_87714295delinsCGAAAGACCACTAT	NCBI36
NG_016980.1:g.115725_115738delinsATAGTGGTCTTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-58_1179-45delinsATAGTGGTCTTTCG MANE Select	ENSP00000316605.5:n.1179-58_1179-45delinsATAGTGGTCTTTCG
ENST00000681546.1:n.999-58_999-45delinsATAGTGGTCTTTCG
ENST00000681746.1:c.1179-58_1179-45delinsATAGTGGTCTTTCG	ENSP00000505959.1:n.1179-58_1179-45delinsATAGTGGTCTTTCG
ENST00000320005.5:c.1179-58_1179-45delinsATAGTGGTCTTTCG	ENSP00000316605.5:n.1179-58_1179-45delinsATAGTGGTCTTTCG
NM_019098.4:c.1179-58_1179-45delinsATAGTGGTCTTTCG	NP_061971.3:n.1179-58_1179-45delinsATAGTGGTCTTTCG
XM_011517138.1:c.765-58_765-45delinsATAGTGGTCTTTCG	XP_011515440.1:n.765-58_765-45delinsATAGTGGTCTTTCG
XM_011517138.2:c.765-58_765-45delinsATAGTGGTCTTTCG	XP_011515440.1:n.765-58_765-45delinsATAGTGGTCTTTCG
NM_019098.5:c.1179-58_1179-45delinsATAGTGGTCTTTCG MANE Select	NP_061971.3:n.1179-58_1179-45delinsATAGTGGTCTTTCG