Canonical Allele Identifier: CA1799825590

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643709_86643710delinsTA , CM000670.2:g.86643709_86643710delinsTA	GRCh38
NC_000008.10:g.87655937_87655938delinsTA , CM000670.1:g.87655937_87655938delinsTA	GRCh37
NC_000008.9:g.87725053_87725054delinsTA	NCBI36
NG_016980.1:g.104966_104967delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+41_1178+42delinsTA MANE Select	ENSP00000316605.5:n.1178+41_1178+42delinsTA
ENST00000681546.1:n.998+41_998+42delinsTA
ENST00000681746.1:c.1178+41_1178+42delinsTA	ENSP00000505959.1:n.1178+41_1178+42delinsTA
ENST00000320005.5:c.1178+41_1178+42delinsTA	ENSP00000316605.5:n.1178+41_1178+42delinsTA
NM_019098.4:c.1178+41_1178+42delinsTA	NP_061971.3:n.1178+41_1178+42delinsTA
XM_011517138.1:c.764+41_764+42delinsTA	XP_011515440.1:n.764+41_764+42delinsTA
XM_011517138.2:c.764+41_764+42delinsTA	XP_011515440.1:n.764+41_764+42delinsTA
NM_019098.5:c.1178+41_1178+42delinsTA MANE Select	NP_061971.3:n.1178+41_1178+42delinsTA