Canonical Allele Identifier: CA2580076301

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705992
• ClinVar RCV Id: RCV002284522

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587746_117587747delinsG , CM000669.2:g.117587746_117587747delinsG	GRCh38
NC_000007.13:g.117227800_117227801delinsG , CM000669.1:g.117227800_117227801delinsG	GRCh37
NC_000007.12:g.117015036_117015037delinsG	NCBI36
NG_016465.4:g.126963_126964delinsG , LRG_663:g.126963_126964delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1592_1593delinsG	ENSP00000497673.2:p.Ser531Ter
ENST00000647978.2:c.*1306_*1307delinsG	ENSP00000497658.1:n.*1306_*1307delinsG
ENST00000649781.2:c.1409_1410delinsG	ENSP00000497203.1:p.Ser470Ter
ENST00000685018.2:c.1592_1593delinsG	ENSP00000510194.2:p.Ser531Ter
ENST00000687278.2:c.1592_1593delinsG	ENSP00000509593.2:p.Ser531Ter
ENST00000699585.1:c.1592_1593delinsG	ENSP00000514456.1:p.Ser531Ter
ENST00000699598.1:c.1592_1593delinsG	ENSP00000514467.1:p.Ser531Ter
ENST00000699599.1:c.1592_1593delinsG	ENSP00000514468.1:p.Ser531Ter
ENST00000699600.1:c.1592_1593delinsG	ENSP00000514469.1:p.Ser531Ter
ENST00000699601.1:c.1592_1593delinsG	ENSP00000514470.1:p.Ser531Ter
ENST00000699602.1:c.1592_1593delinsG	ENSP00000514471.1:p.Ser531Ter
ENST00000699604.1:c.*1416_*1417delinsG	ENSP00000514472.1:n.*1416_*1417delinsG
ENST00000699605.1:c.1166_1167delinsG	ENSP00000514473.1:p.Ser389Ter
ENST00000003084.11:c.1592_1593delinsG MANE Select	ENSP00000003084.6:p.Ser531Ter
ENST00000647978.1:c.*1306_*1307delinsG	ENSP00000497658.1:n.*1306_*1307delinsG
ENST00000648260.1:c.1402-15080_1402-15079delinsG	ENSP00000497957.1:n.1402-15080_1402-15079...
ENST00000649406.1:c.1409_1410delinsG	ENSP00000497965.1:p.Ser470Ter
ENST00000649781.1:c.1409_1410delinsG	ENSP00000497203.1:p.Ser470Ter
ENST00000003084.10:c.1592_1593delinsG	ENSP00000003084.6:p.Ser531Ter
ENST00000426809.5:c.1502_1503delinsG	ENSP00000389119.1:p.Ser501Ter
ENST00000472848.1:n.145_146delinsG
NM_000492.3:c.1592_1593delinsG , LRG_663t1:c.1592_1593delinsG	NP_000483.3:p.Ser531Ter
XM_011515751.1:c.1682_1683delinsG	XP_011514053.1:p.Ser561Ter
XM_011515752.1:c.1682_1683delinsG	XP_011514054.1:p.Ser561Ter
XM_011515753.1:c.1349_1350delinsG	XP_011514055.1:p.Ser450Ter
XM_011515754.1:c.1349_1350delinsG	XP_011514056.1:p.Ser450Ter
NM_000492.4:c.1592_1593delinsG MANE Select	NP_000483.3:p.Ser531Ter