Canonical Allele Identifier: CA2507749182

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592385_117592386insAATGGAAAATTTT , CM000669.2:g.117592385_117592386insAATGGAAAATTTT	GRCh38
NC_000007.13:g.117232439_117232440insAATGGAAAATTTT , CM000669.1:g.117232439_117232440insAATGGAAAATTTT	GRCh37
NC_000007.12:g.117019675_117019676insAATGGAAAATTTT	NCBI36
NG_016465.4:g.131602_131603insAATGGAAAATTTT , LRG_663:g.131602_131603insAATGGAAAATTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2218_2219insAATGGAAAATTTT	ENSP00000497673.2:p.Pro740GlnfsTer8
ENST00000647978.2:c.*1932_*1933insAATGGAAAATTTT	ENSP00000497658.1:n.*1932_*1933insAATGGAAAATTTT
ENST00000649781.2:c.2035_2036insAATGGAAAATTTT	ENSP00000497203.1:p.Pro679GlnfsTer8
ENST00000685018.2:c.2218_2219insAATGGAAAATTTT	ENSP00000510194.2:p.Pro740GlnfsTer8
ENST00000687278.2:c.2218_2219insAATGGAAAATTTT	ENSP00000509593.2:p.Pro740GlnfsTer8
ENST00000699585.1:c.2218_2219insAATGGAAAATTTT	ENSP00000514456.1:p.Pro740GlnfsTer8
ENST00000699598.1:c.2218_2219insAATGGAAAATTTT	ENSP00000514467.1:p.Pro740GlnfsTer8
ENST00000699599.1:c.2218_2219insAATGGAAAATTTT	ENSP00000514468.1:p.Pro740GlnfsTer8
ENST00000699600.1:c.2218_2219insAATGGAAAATTTT	ENSP00000514469.1:p.Pro740GlnfsTer8
ENST00000699601.1:c.*518_*519insAATGGAAAATTTT	ENSP00000514470.1:n.*518_*519insAATGGAAAATTTT
ENST00000699602.1:c.2218_2219insAATGGAAAATTTT	ENSP00000514471.1:p.Pro740GlnfsTer8
ENST00000699604.1:c.*2042_*2043insAATGGAAAATTTT	ENSP00000514472.1:n.*2042_*2043insAATGGAAAATTTT
ENST00000699605.1:c.1792_1793insAATGGAAAATTTT	ENSP00000514473.1:p.Pro598GlnfsTer8
ENST00000003084.11:c.2218_2219insAATGGAAAATTTT MANE Select	ENSP00000003084.6:p.Pro740GlnfsTer8
ENST00000647978.1:c.*1932_*1933insAATGGAAAATTTT	ENSP00000497658.1:n.*1932_*1933insAATGGAAAATTTT
ENST00000648260.1:c.1402-10441_1402-10440insAATGGAAAATTTT	ENSP00000497957.1:n.1402-10441_1402-10440insAATGGAAAATTTT
ENST00000649406.1:c.2035_2036insAATGGAAAATTTT	ENSP00000497965.1:p.Pro679GlnfsTer8
ENST00000649781.1:c.2035_2036insAATGGAAAATTTT	ENSP00000497203.1:p.Pro679GlnfsTer8
ENST00000003084.10:c.2218_2219insAATGGAAAATTTT	ENSP00000003084.6:p.Pro740GlnfsTer8
ENST00000426809.5:c.2128_2129insAATGGAAAATTTT	ENSP00000389119.1:p.Pro710GlnfsTer8
NM_000492.3:c.2218_2219insAATGGAAAATTTT , LRG_663t1:c.2218_2219insAATGGAAAATTTT	NP_000483.3:p.Pro740GlnfsTer8
XM_011515751.1:c.2308_2309insAATGGAAAATTTT	XP_011514053.1:p.Pro770GlnfsTer8
XM_011515752.1:c.2308_2309insAATGGAAAATTTT	XP_011514054.1:p.Pro770GlnfsTer8
XM_011515753.1:c.1975_1976insAATGGAAAATTTT	XP_011514055.1:p.Pro659GlnfsTer8
XM_011515754.1:c.1975_1976insAATGGAAAATTTT	XP_011514056.1:p.Pro659GlnfsTer8
NM_000492.4:c.2218_2219insAATGGAAAATTTT MANE Select	NP_000483.3:p.Pro740GlnfsTer8