Canonical Allele Identifier: CA1737385255

Gene: CFTR

Linked Data

• dbSNP Id: rs1792370803

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610662_117610663insGA , CM000669.2:g.117610662_117610663insGA	GRCh38
NC_000007.13:g.117250716_117250717insGA , CM000669.1:g.117250716_117250717insGA	GRCh37
NC_000007.12:g.117037952_117037953insGA	NCBI36
NG_016465.4:g.149879_149880insGA , LRG_663:g.149879_149880insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3132_3133insGA	ENSP00000497673.2:p.Ser1045AspfsTer16
ENST00000647978.2:c.*2846_*2847insGA	ENSP00000497658.1:n.*2846_*2847insGA
ENST00000649781.2:c.2949_2950insGA	ENSP00000497203.1:p.Ser984AspfsTer16
ENST00000685018.2:c.3132_3133insGA	ENSP00000510194.2:p.Ser1045AspfsTer16
ENST00000687278.2:c.3132_3133insGA	ENSP00000509593.2:p.Ser1045AspfsTer16
ENST00000699585.1:c.3132_3133insGA	ENSP00000514456.1:p.Ser1045AspfsTer16
ENST00000699598.1:c.3132_3133insGA	ENSP00000514467.1:p.Ser1045AspfsTer16
ENST00000699599.1:c.3132_3133insGA	ENSP00000514468.1:p.Ser1045AspfsTer16
ENST00000699600.1:c.3132_3133insGA	ENSP00000514469.1:p.Ser1045AspfsTer16
ENST00000699601.1:c.*1432_*1433insGA	ENSP00000514470.1:n.*1432_*1433insGA
ENST00000699602.1:c.3132_3133insGA	ENSP00000514471.1:p.Ser1045AspfsTer16
ENST00000699604.1:c.*2956_*2957insGA	ENSP00000514472.1:n.*2956_*2957insGA
ENST00000699605.1:c.2706_2707insGA	ENSP00000514473.1:p.Ser903AspfsTer16
ENST00000687278.1:c.723_724insGA	ENSP00000509593.1:p.Ser242AspfsTer16
ENST00000003084.11:c.3132_3133insGA MANE Select	ENSP00000003084.6:p.Ser1045AspfsTer16
ENST00000647720.1:c.782_783insGA
ENST00000648260.1:c.1914_1915insGA	ENSP00000497957.1:p.Ser639AspfsTer16
ENST00000649406.1:c.2949_2950insGA	ENSP00000497965.1:p.Ser984AspfsTer16
ENST00000649781.1:c.2949_2950insGA	ENSP00000497203.1:p.Ser984AspfsTer16
ENST00000003084.10:c.3132_3133insGA	ENSP00000003084.6:p.Ser1045AspfsTer16
ENST00000426809.5:c.3042_3043insGA	ENSP00000389119.1:p.Ser1015AspfsTer16
NM_000492.3:c.3132_3133insGA , LRG_663t1:c.3132_3133insGA	NP_000483.3:p.Ser1045AspfsTer16
XM_011515751.1:c.3222_3223insGA	XP_011514053.1:p.Ser1075AspfsTer16
XM_011515752.1:c.3222_3223insGA	XP_011514054.1:p.Ser1075AspfsTer16
XM_011515753.1:c.2889_2890insGA	XP_011514055.1:p.Ser964AspfsTer16
XM_011515754.1:c.2889_2890insGA	XP_011514056.1:p.Ser964AspfsTer16
NM_000492.4:c.3132_3133insGA MANE Select	NP_000483.3:p.Ser1045AspfsTer16