Canonical Allele Identifier: CA1455551858

Gene: CNGA1 NIPAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937154_47937155delinsGT , CM000666.2:g.47937154_47937155delinsGT	GRCh38
NC_000004.11:g.47939171_47939172delinsGT , CM000666.1:g.47939171_47939172delinsGT	GRCh37
NC_000004.10:g.47633928_47633929delinsGT	NCBI36
NG_009193.1:g.80790_80791delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1327_1328delinsAC (CNGA1)	ENSP00000384264.5:p.Thr443=
ENST00000420489.7:c.1327_1328delinsAC (CNGA1)	ENSP00000389881.3:p.Thr443=
ENST00000514170.7:c.1327_1328delinsAC (CNGA1) MANE Select	ENSP00000426862.3:p.Thr443=
ENST00000358519.8:c.1339_1340delinsAC (CNGA1)	ENSP00000351320.4:p.Thr447=
ENST00000402813.7:c.1546_1547delinsAC (CNGA1)	ENSP00000384264.3:p.Thr516=
ENST00000420489.6:c.1339_1340delinsAC (CNGA1)	ENSP00000389881.2:p.Thr447=
ENST00000500571.2:n.479-21870_479-21869delinsGT (NIPAL1)
ENST00000513724.1:n.563+22450_563+22451delinsGT (NIPAL1)
ENST00000514170.5:c.1339_1340delinsAC (CNGA1)	ENSP00000426862.1:p.Thr447=
ENST00000544810.5:c.1546_1547delinsAC (CNGA1)	ENSP00000443401.2:p.Thr516=
NM_000087.3:c.1339_1340delinsAC (CNGA1)	NP_000078.2:p.Thr447=
NM_001142564.1:c.1546_1547delinsAC (CNGA1)	NP_001136036.1:p.Thr516=
NR_125879.1:n.479-21870_479-21869delinsGT
XM_005248049.3:c.1339_1340delinsAC (CNGA1)	XP_005248106.1:p.Thr447=
XM_011513623.1:c.1339_1340delinsAC (CNGA1)	XP_011511925.1:p.Thr447=
XM_005248049.4:c.1564_1565delinsAC (CNGA1)	XP_005248106.2:p.Thr522=
XM_011513623.2:c.1339_1340delinsAC (CNGA1)	XP_011511925.1:p.Thr447=
XM_017007712.1:c.1339_1340delinsAC (CNGA1)	XP_016863201.1:p.Thr447=
NM_000087.4:c.1339_1340delinsAC (CNGA1)	NP_000078.2:p.Thr447=
NM_001375386.1:c.1339_1340delinsAC (CNGA1)	NP_001362315.1:p.Thr447=
NM_000087.5:c.1327_1328delinsAC (CNGA1)	NP_000078.3:p.Thr443=
NM_001142564.2:c.1327_1328delinsAC (CNGA1)	NP_001136036.2:p.Thr443=
NM_001379270.1:c.1327_1328delinsAC (CNGA1) MANE Select	NP_001366199.1:p.Thr443=