Canonical Allele Identifier: CA2670552352

Gene: CNGA1 NIPAL1

Linked Data

• gnomAD v4: 4-47937187-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937191_47937193dup , CM000666.2:g.47937191_47937193dup	GRCh38
NC_000004.11:g.47939208_47939210dup , CM000666.1:g.47939208_47939210dup	GRCh37
NC_000004.10:g.47633965_47633967dup	NCBI36
NG_009193.1:g.80755_80757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1292_1294dup (CNGA1)	ENSP00000384264.5:p.Ile431_Lys432insIle
ENST00000420489.7:c.1292_1294dup (CNGA1)	ENSP00000389881.3:p.Ile431_Lys432insIle
ENST00000514170.7:c.1292_1294dup (CNGA1) MANE Select	ENSP00000426862.3:p.Ile431_Lys432insIle
ENST00000358519.8:c.1304_1306dup (CNGA1)	ENSP00000351320.4:p.Ile435_Lys436insIle
ENST00000402813.7:c.1511_1513dup (CNGA1)	ENSP00000384264.3:p.Ile504_Lys505insIle
ENST00000420489.6:c.1304_1306dup (CNGA1)	ENSP00000389881.2:p.Ile435_Lys436insIle
ENST00000500571.2:n.479-21833_479-21831dup (NIPAL1)
ENST00000513724.1:n.563+22487_563+22489dup (NIPAL1)
ENST00000514170.5:c.1304_1306dup (CNGA1)	ENSP00000426862.1:p.Ile435_Lys436insIle
ENST00000544810.5:c.1511_1513dup (CNGA1)	ENSP00000443401.2:p.Ile504_Lys505insIle
NM_000087.3:c.1304_1306dup (CNGA1)	NP_000078.2:p.Ile435_Lys436insIle
NM_001142564.1:c.1511_1513dup (CNGA1)	NP_001136036.1:p.Ile504_Lys505insIle
NR_125879.1:n.479-21833_479-21831dup
XM_005248049.3:c.1304_1306dup (CNGA1)	XP_005248106.1:p.Ile435_Lys436insIle
XM_011513623.1:c.1304_1306dup (CNGA1)	XP_011511925.1:p.Ile435_Lys436insIle
XM_005248049.4:c.1529_1531dup (CNGA1)	XP_005248106.2:p.Ile510_Lys511insIle
XM_011513623.2:c.1304_1306dup (CNGA1)	XP_011511925.1:p.Ile435_Lys436insIle
XM_017007712.1:c.1304_1306dup (CNGA1)	XP_016863201.1:p.Ile435_Lys436insIle
NM_000087.4:c.1304_1306dup (CNGA1)	NP_000078.2:p.Ile435_Lys436insIle
NM_001375386.1:c.1304_1306dup (CNGA1)	NP_001362315.1:p.Ile435_Lys436insIle
NM_000087.5:c.1292_1294dup (CNGA1)	NP_000078.3:p.Ile431_Lys432insIle
NM_001142564.2:c.1292_1294dup (CNGA1)	NP_001136036.2:p.Ile431_Lys432insIle
NM_001379270.1:c.1292_1294dup (CNGA1) MANE Select	NP_001366199.1:p.Ile431_Lys432insIle