Canonical Allele Identifier: CA2761332297

Gene: CNGA1 NIPAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937145_47937146del , CM000666.2:g.47937145_47937146del	GRCh38
NC_000004.11:g.47939162_47939163del , CM000666.1:g.47939162_47939163del	GRCh37
NC_000004.10:g.47633919_47633920del	NCBI36
NG_009193.1:g.80801_80802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1338_1339del (CNGA1)	ENSP00000384264.5:p.Lys447ArgfsTer8
ENST00000420489.7:c.1338_1339del (CNGA1)	ENSP00000389881.3:p.Lys447ArgfsTer8
ENST00000514170.7:c.1338_1339del (CNGA1) MANE Select	ENSP00000426862.3:p.Lys447ArgfsTer8
ENST00000358519.8:c.1350_1351del (CNGA1)	ENSP00000351320.4:p.Lys451ArgfsTer8
ENST00000402813.7:c.1557_1558del (CNGA1)	ENSP00000384264.3:p.Lys520ArgfsTer8
ENST00000420489.6:c.1350_1351del (CNGA1)	ENSP00000389881.2:p.Lys451ArgfsTer8
ENST00000500571.2:n.479-21879_479-21878del (NIPAL1)
ENST00000513724.1:n.563+22441_563+22442del (NIPAL1)
ENST00000514170.5:c.1350_1351del (CNGA1)	ENSP00000426862.1:p.Lys451ArgfsTer8
ENST00000544810.5:c.1557_1558del (CNGA1)	ENSP00000443401.2:p.Lys520ArgfsTer8
NM_000087.3:c.1350_1351del (CNGA1)	NP_000078.2:p.Lys451ArgfsTer8
NM_001142564.1:c.1557_1558del (CNGA1)	NP_001136036.1:p.Lys520ArgfsTer8
NR_125879.1:n.479-21879_479-21878del
XM_005248049.3:c.1350_1351del (CNGA1)	XP_005248106.1:p.Lys451ArgfsTer8
XM_011513623.1:c.1350_1351del (CNGA1)	XP_011511925.1:p.Lys451ArgfsTer8
XM_005248049.4:c.1575_1576del (CNGA1)	XP_005248106.2:p.Lys526ArgfsTer8
XM_011513623.2:c.1350_1351del (CNGA1)	XP_011511925.1:p.Lys451ArgfsTer8
XM_017007712.1:c.1350_1351del (CNGA1)	XP_016863201.1:p.Lys451ArgfsTer8
NM_000087.4:c.1350_1351del (CNGA1)	NP_000078.2:p.Lys451ArgfsTer8
NM_001375386.1:c.1350_1351del (CNGA1)	NP_001362315.1:p.Lys451ArgfsTer8
NM_000087.5:c.1338_1339del (CNGA1)	NP_000078.3:p.Lys447ArgfsTer8
NM_001142564.2:c.1338_1339del (CNGA1)	NP_001136036.2:p.Lys447ArgfsTer8
NM_001379270.1:c.1338_1339del (CNGA1) MANE Select	NP_001366199.1:p.Lys447ArgfsTer8