Canonical Allele Identifier: CA2840287851

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592097_117592098insATATAAATA , CM000669.2:g.117592097_117592098insATATAAATA	GRCh38
NC_000007.13:g.117232151_117232152insATATAAATA , CM000669.1:g.117232151_117232152insATATAAATA	GRCh37
NC_000007.12:g.117019387_117019388insATATAAATA	NCBI36
NG_016465.4:g.131314_131315insATATAAATA , LRG_663:g.131314_131315insATATAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1930_1931insATATAAATA	ENSP00000497673.2:p.Leu644delinsHisIleAsnIle
ENST00000647978.2:c.*1644_*1645insATATAAATA	ENSP00000497658.1:n.*1644_*1645insATATAAATA
ENST00000649781.2:c.1747_1748insATATAAATA	ENSP00000497203.1:p.Leu583delinsHisIleAsnIle
ENST00000685018.2:c.1930_1931insATATAAATA	ENSP00000510194.2:p.Leu644delinsHisIleAsnIle
ENST00000687278.2:c.1930_1931insATATAAATA	ENSP00000509593.2:p.Leu644delinsHisIleAsnIle
ENST00000699585.1:c.1930_1931insATATAAATA	ENSP00000514456.1:p.Leu644delinsHisIleAsnIle
ENST00000699598.1:c.1930_1931insATATAAATA	ENSP00000514467.1:p.Leu644delinsHisIleAsnIle
ENST00000699599.1:c.1930_1931insATATAAATA	ENSP00000514468.1:p.Leu644delinsHisIleAsnIle
ENST00000699600.1:c.1930_1931insATATAAATA	ENSP00000514469.1:p.Leu644delinsHisIleAsnIle
ENST00000699601.1:c.*230_*231insATATAAATA	ENSP00000514470.1:n.*230_*231insATATAAATA
ENST00000699602.1:c.1930_1931insATATAAATA	ENSP00000514471.1:p.Leu644delinsHisIleAsnIle
ENST00000699604.1:c.*1754_*1755insATATAAATA	ENSP00000514472.1:n.*1754_*1755insATATAAATA
ENST00000699605.1:c.1504_1505insATATAAATA	ENSP00000514473.1:p.Leu502delinsHisIleAsnIle
ENST00000003084.11:c.1930_1931insATATAAATA MANE Select	ENSP00000003084.6:p.Leu644delinsHisIleAsnIle
ENST00000647978.1:c.*1644_*1645insATATAAATA	ENSP00000497658.1:n.*1644_*1645insATATAAATA
ENST00000648260.1:c.1402-10729_1402-10728insATATAAATA	ENSP00000497957.1:n.1402-10729_1402-10728insATATAAATA
ENST00000649406.1:c.1747_1748insATATAAATA	ENSP00000497965.1:p.Leu583delinsHisIleAsnIle
ENST00000649781.1:c.1747_1748insATATAAATA	ENSP00000497203.1:p.Leu583delinsHisIleAsnIle
ENST00000003084.10:c.1930_1931insATATAAATA	ENSP00000003084.6:p.Leu644delinsHisIleAsnIle
ENST00000426809.5:c.1840_1841insATATAAATA	ENSP00000389119.1:p.Leu614delinsHisIleAsnIle
NM_000492.3:c.1930_1931insATATAAATA , LRG_663t1:c.1930_1931insATATAAATA	NP_000483.3:p.Leu644delinsHisIleAsnIle
XM_011515751.1:c.2020_2021insATATAAATA	XP_011514053.1:p.Leu674delinsHisIleAsnIle
XM_011515752.1:c.2020_2021insATATAAATA	XP_011514054.1:p.Leu674delinsHisIleAsnIle
XM_011515753.1:c.1687_1688insATATAAATA	XP_011514055.1:p.Leu563delinsHisIleAsnIle
XM_011515754.1:c.1687_1688insATATAAATA	XP_011514056.1:p.Leu563delinsHisIleAsnIle
NM_000492.4:c.1930_1931insATATAAATA MANE Select	NP_000483.3:p.Leu644delinsHisIleAsnIle