Canonical Allele Identifier: CA1799826115

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667929_86667948delinsGGAAAATAGAAGCTATCTGT , CM000670.2:g.86667929_86667948delinsGGAAAATAGAAGCTATCTGT	GRCh38
NC_000008.10:g.87680157_87680176delinsGGAAAATAGAAGCTATCTGT , CM000670.1:g.87680157_87680176delinsGGAAAATAGAAGCTATCTGT	GRCh37
NC_000008.9:g.87749273_87749292delinsGGAAAATAGAAGCTATCTGT	NCBI36
NG_016980.1:g.80728_80747delinsACAGATAGCTTCTATTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.643+71_643+90delinsACAGATAGCTTCTATTTTCC MANE Select	ENSP00000316605.5:n.643+71_643+90delinsACAGATAGCTTCTATTTTCC
ENST00000681746.1:c.643+71_643+90delinsACAGATAGCTTCTATTTTCC	ENSP00000505959.1:n.643+71_643+90delinsACAGATAGCTTCTATTTTCC
ENST00000320005.5:c.643+71_643+90delinsACAGATAGCTTCTATTTTCC	ENSP00000316605.5:n.643+71_643+90delinsACAGATAGCTTCTATTTTCC
NM_019098.4:c.643+71_643+90delinsACAGATAGCTTCTATTTTCC	NP_061971.3:n.643+71_643+90delinsACAGATAGCTTCTATTTTCC
XM_011517138.1:c.229+71_229+90delinsACAGATAGCTTCTATTTTCC	XP_011515440.1:n.229+71_229+90delinsACAGATAGCTTCTATTTTCC
XM_011517138.2:c.229+71_229+90delinsACAGATAGCTTCTATTTTCC	XP_011515440.1:n.229+71_229+90delinsACAGATAGCTTCTATTTTCC
NM_019098.5:c.643+71_643+90delinsACAGATAGCTTCTATTTTCC MANE Select	NP_061971.3:n.643+71_643+90delinsACAGATAGCTTCTATTTTCC