Canonical Allele Identifier: CA2687825039

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632867-A-ATAATAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632867_86632868insTAATAATG , CM000670.2:g.86632867_86632868insTAATAATG	GRCh38
NC_000008.10:g.87645095_87645096insTAATAATG , CM000670.1:g.87645095_87645096insTAATAATG	GRCh37
NC_000008.9:g.87714211_87714212insTAATAATG	NCBI36
NG_016980.1:g.115808_115809insCATTATTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1204_1205insCATTATTA MANE Select	ENSP00000316605.5:p.Val402AlafsTer7
ENST00000681546.1:n.1024_1025insCATTATTA
ENST00000681746.1:c.1204_1205insCATTATTA	ENSP00000505959.1:p.Val402AlafsTer7
ENST00000320005.5:c.1204_1205insCATTATTA	ENSP00000316605.5:p.Val402AlafsTer7
NM_019098.4:c.1204_1205insCATTATTA	NP_061971.3:p.Val402AlafsTer7
XM_011517138.1:c.790_791insCATTATTA	XP_011515440.1:p.Val264AlafsTer7
XM_011517138.2:c.790_791insCATTATTA	XP_011515440.1:p.Val264AlafsTer7
NM_019098.5:c.1204_1205insCATTATTA MANE Select	NP_061971.3:p.Val402AlafsTer7