Canonical Allele Identifier: CA1139658482

Gene: CNGA1 NIPAL1

Linked Data

• ClinVar Variation Id: 813037
• ClinVar RCV Id: RCV001199460
• dbSNP Id: rs1738719686

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937272_47937276del , CM000666.2:g.47937272_47937276del	GRCh38
NC_000004.11:g.47939289_47939293del , CM000666.1:g.47939289_47939293del	GRCh37
NC_000004.10:g.47634046_47634050del	NCBI36
NG_009193.1:g.80673_80677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1210_1214del (CNGA1)	ENSP00000384264.5:p.Ala404IlefsTer6
ENST00000420489.7:c.1210_1214del (CNGA1)	ENSP00000389881.3:p.Ala404IlefsTer6
ENST00000514170.7:c.1210_1214del (CNGA1) MANE Select	ENSP00000426862.3:p.Ala404IlefsTer6
ENST00000358519.8:c.1222_1226del (CNGA1)	ENSP00000351320.4:p.Ala408IlefsTer6
ENST00000402813.7:c.1429_1433del (CNGA1)	ENSP00000384264.3:p.Ala477IlefsTer6
ENST00000420489.6:c.1222_1226del (CNGA1)	ENSP00000389881.2:p.Ala408IlefsTer6
ENST00000500571.2:n.479-21752_479-21748del (NIPAL1)
ENST00000513724.1:n.563+22568_563+22572del (NIPAL1)
ENST00000514170.5:c.1222_1226del (CNGA1)	ENSP00000426862.1:p.Ala408IlefsTer6
ENST00000544810.5:c.1429_1433del (CNGA1)	ENSP00000443401.2:p.Ala477IlefsTer6
NM_000087.3:c.1222_1226del (CNGA1)	NP_000078.2:p.Ala408IlefsTer6
NM_001142564.1:c.1429_1433del (CNGA1)	NP_001136036.1:p.Ala477IlefsTer6
NR_125879.1:n.479-21752_479-21748del
XM_005248049.3:c.1222_1226del (CNGA1)	XP_005248106.1:p.Ala408IlefsTer6
XM_011513623.1:c.1222_1226del (CNGA1)	XP_011511925.1:p.Ala408IlefsTer6
XM_005248049.4:c.1447_1451del (CNGA1)	XP_005248106.2:p.Ala483IlefsTer6
XM_011513623.2:c.1222_1226del (CNGA1)	XP_011511925.1:p.Ala408IlefsTer6
XM_017007712.1:c.1222_1226del (CNGA1)	XP_016863201.1:p.Ala408IlefsTer6
NM_000087.4:c.1222_1226del (CNGA1)	NP_000078.2:p.Ala408IlefsTer6
NM_001375386.1:c.1222_1226del (CNGA1)	NP_001362315.1:p.Ala408IlefsTer6
NM_000087.5:c.1210_1214del (CNGA1)	NP_000078.3:p.Ala404IlefsTer6
NM_001142564.2:c.1210_1214del (CNGA1)	NP_001136036.2:p.Ala404IlefsTer6
NM_001379270.1:c.1210_1214del (CNGA1) MANE Select	NP_001366199.1:p.Ala404IlefsTer6