Canonical Allele Identifier: CA645531848

Gene: CNGA1 NIPAL1

Linked Data

• COSMIC: COSM5401265 ; COSM5401266

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47936698_47936699delinsAT , CM000666.2:g.47936698_47936699delinsAT	GRCh38
NC_000004.11:g.47938715_47938716delinsAT , CM000666.1:g.47938715_47938716delinsAT	GRCh37
NC_000004.10:g.47633472_47633473delinsAT	NCBI36
NG_009193.1:g.81246_81247delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1783_1784delinsAT (CNGA1)	ENSP00000384264.5:p.Gly595Met
ENST00000420489.7:c.1783_1784delinsAT (CNGA1)	ENSP00000389881.3:p.Gly595Met
ENST00000514170.7:c.1783_1784delinsAT (CNGA1) MANE Select	ENSP00000426862.3:p.Gly595Met
ENST00000358519.8:c.1795_1796delinsAT (CNGA1)	ENSP00000351320.4:p.Gly599Met
ENST00000402813.7:c.2002_2003delinsAT (CNGA1)	ENSP00000384264.3:p.Gly668Met
ENST00000420489.6:c.1795_1796delinsAT (CNGA1)	ENSP00000389881.2:p.Gly599Met
ENST00000500571.2:n.478+21994_478+21995delinsAT (NIPAL1)
ENST00000513724.1:n.563+21994_563+21995delinsAT (NIPAL1)
ENST00000514170.5:c.1795_1796delinsAT (CNGA1)	ENSP00000426862.1:p.Gly599Met
ENST00000544810.5:c.2002_2003delinsAT (CNGA1)	ENSP00000443401.2:p.Gly668Met
NM_000087.3:c.1795_1796delinsAT (CNGA1)	NP_000078.2:p.Gly599Met
NM_001142564.1:c.2002_2003delinsAT (CNGA1)	NP_001136036.1:p.Gly668Met
NR_125879.1:n.478+21994_478+21995delinsAT
XM_005248049.3:c.1795_1796delinsAT (CNGA1)	XP_005248106.1:p.Gly599Met
XM_011513623.1:c.1795_1796delinsAT (CNGA1)	XP_011511925.1:p.Gly599Met
XM_005248049.4:c.2020_2021delinsAT (CNGA1)	XP_005248106.2:p.Gly674Met
XM_011513623.2:c.1795_1796delinsAT (CNGA1)	XP_011511925.1:p.Gly599Met
XM_017007712.1:c.1795_1796delinsAT (CNGA1)	XP_016863201.1:p.Gly599Met
NM_000087.4:c.1795_1796delinsAT (CNGA1)	NP_000078.2:p.Gly599Met
NM_001375386.1:c.1795_1796delinsAT (CNGA1)	NP_001362315.1:p.Gly599Met
NM_000087.5:c.1783_1784delinsAT (CNGA1)	NP_000078.3:p.Gly595Met
NM_001142564.2:c.1783_1784delinsAT (CNGA1)	NP_001136036.2:p.Gly595Met
NM_001379270.1:c.1783_1784delinsAT (CNGA1) MANE Select	NP_001366199.1:p.Gly595Met