Canonical Allele Identifier: CA1799784557

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576065_86576071delinsATTTTCT , CM000670.2:g.86576065_86576071delinsATTTTCT	GRCh38
NC_000008.10:g.87588293_87588299delinsATTTTCT , CM000670.1:g.87588293_87588299delinsATTTTCT	GRCh37
NC_000008.9:g.87657409_87657415delinsATTTTCT	NCBI36
NG_016980.1:g.172605_172611delinsAGAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2163_2169delinsAGAAAAT MANE Select	ENSP00000316605.5:p.Lys721=
ENST00000681546.1:n.1983_1989delinsAGAAAAT
ENST00000681746.1:c.*574_*580delinsAGAAAAT	ENSP00000505959.1:n.*574_*580delinsAGAAAAT
ENST00000320005.5:c.2163_2169delinsAGAAAAT	ENSP00000316605.5:p.Lys721=
ENST00000517327.5:c.276+2618_276+2624delinsAGAAAAT	ENSP00000428329.1:n.276+2618_276+2624delinsAGAAAAT
NM_019098.4:c.2163_2169delinsAGAAAAT	NP_061971.3:p.Lys721=
XM_011517138.1:c.1749_1755delinsAGAAAAT	XP_011515440.1:p.Lys583=
XM_011517138.2:c.1749_1755delinsAGAAAAT	XP_011515440.1:p.Lys583=
NM_019098.5:c.2163_2169delinsAGAAAAT MANE Select	NP_061971.3:p.Lys721=