Canonical Allele Identifier: CA915945430

Gene: CFTR

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595001_117595002delinsGA , CM000669.2:g.117595001_117595002delinsGA	GRCh38
NC_000007.13:g.117235055_117235056delinsGA , CM000669.1:g.117235055_117235056delinsGA	GRCh37
NC_000007.12:g.117022291_117022292delinsGA	NCBI36
NG_016465.4:g.134218_134219delinsGA , LRG_663:g.134218_134219delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2562_2563delinsGA	ENSP00000497673.2:p.Val855Ile
ENST00000647978.2:c.*2276_*2277delinsGA	ENSP00000497658.1:n.*2276_*2277delinsGA
ENST00000649781.2:c.2379_2380delinsGA	ENSP00000497203.1:p.Val794Ile
ENST00000685018.2:c.2562_2563delinsGA	ENSP00000510194.2:p.Val855Ile
ENST00000687278.2:c.2562_2563delinsGA	ENSP00000509593.2:p.Val855Ile
ENST00000699585.1:c.2562_2563delinsGA	ENSP00000514456.1:p.Val855Ile
ENST00000699598.1:c.2562_2563delinsGA	ENSP00000514467.1:p.Val855Ile
ENST00000699599.1:c.2562_2563delinsGA	ENSP00000514468.1:p.Val855Ile
ENST00000699600.1:c.2562_2563delinsGA	ENSP00000514469.1:p.Val855Ile
ENST00000699601.1:c.*862_*863delinsGA	ENSP00000514470.1:n.*862_*863delinsGA
ENST00000699602.1:c.2562_2563delinsGA	ENSP00000514471.1:p.Val855Ile
ENST00000699604.1:c.*2386_*2387delinsGA	ENSP00000514472.1:n.*2386_*2387delinsGA
ENST00000699605.1:c.2136_2137delinsGA	ENSP00000514473.1:p.Val713Ile
ENST00000687278.1:c.153_154delinsGA	ENSP00000509593.1:p.Val52Ile
ENST00000003084.11:c.2562_2563delinsGA MANE Select	ENSP00000003084.6:p.Val855Ile
ENST00000647720.1:c.212_213delinsGA
ENST00000648260.1:c.1402-7825_1402-7824delinsGA	ENSP00000497957.1:n.1402-7825_1402-7824delinsGA
ENST00000649406.1:c.2379_2380delinsGA	ENSP00000497965.1:p.Val794Ile
ENST00000649781.1:c.2379_2380delinsGA	ENSP00000497203.1:p.Val794Ile
ENST00000003084.10:c.2562_2563delinsGA	ENSP00000003084.6:p.Val855Ile
ENST00000426809.5:c.2472_2473delinsGA	ENSP00000389119.1:p.Val825Ile
NM_000492.3:c.2562_2563delinsGA , LRG_663t1:c.2562_2563delinsGA	NP_000483.3:p.Val855Ile
XM_011515751.1:c.2652_2653delinsGA	XP_011514053.1:p.Val885Ile
XM_011515752.1:c.2652_2653delinsGA	XP_011514054.1:p.Val885Ile
XM_011515753.1:c.2319_2320delinsGA	XP_011514055.1:p.Val774Ile
XM_011515754.1:c.2319_2320delinsGA	XP_011514056.1:p.Val774Ile
NM_000492.4:c.2562_2563delinsGA MANE Select	NP_000483.3:p.Val855Ile