Canonical Allele Identifier: CA2695208429

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610562del , CM000669.2:g.117610562del	GRCh38
NC_000007.13:g.117250616del , CM000669.1:g.117250616del	GRCh37
NC_000007.12:g.117037852del	NCBI36
NG_016465.4:g.149779del , LRG_663:g.149779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3032del	ENSP00000497673.2:p.Leu1011TyrfsTer12
ENST00000647978.2:c.*2746del	ENSP00000497658.1:n.*2746del
ENST00000649781.2:c.2849del	ENSP00000497203.1:p.Leu950TyrfsTer12
ENST00000685018.2:c.3032del	ENSP00000510194.2:p.Leu1011TyrfsTer12
ENST00000687278.2:c.3032del	ENSP00000509593.2:p.Leu1011TyrfsTer12
ENST00000699585.1:c.3032del	ENSP00000514456.1:p.Leu1011TyrfsTer12
ENST00000699598.1:c.3032del	ENSP00000514467.1:p.Leu1011TyrfsTer12
ENST00000699599.1:c.3032del	ENSP00000514468.1:p.Leu1011TyrfsTer12
ENST00000699600.1:c.3032del	ENSP00000514469.1:p.Leu1011TyrfsTer12
ENST00000699601.1:c.*1332del	ENSP00000514470.1:n.*1332del
ENST00000699602.1:c.3032del	ENSP00000514471.1:p.Leu1011TyrfsTer12
ENST00000699604.1:c.*2856del	ENSP00000514472.1:n.*2856del
ENST00000699605.1:c.2606del	ENSP00000514473.1:p.Leu869TyrfsTer12
ENST00000687278.1:c.623del	ENSP00000509593.1:p.Leu208TyrfsTer12
ENST00000003084.11:c.3032del MANE Select	ENSP00000003084.6:p.Leu1011TyrfsTer12
ENST00000647720.1:c.682del
ENST00000648260.1:c.1814del	ENSP00000497957.1:p.Leu605TyrfsTer12
ENST00000649406.1:c.2849del	ENSP00000497965.1:p.Leu950TyrfsTer12
ENST00000649781.1:c.2849del	ENSP00000497203.1:p.Leu950TyrfsTer12
ENST00000003084.10:c.3032del	ENSP00000003084.6:p.Leu1011TyrfsTer12
ENST00000426809.5:c.2942del	ENSP00000389119.1:p.Leu981TyrfsTer12
NM_000492.3:c.3032del , LRG_663t1:c.3032del	NP_000483.3:p.Leu1011TyrfsTer12
XM_011515751.1:c.3122del	XP_011514053.1:p.Leu1041TyrfsTer12
XM_011515752.1:c.3122del	XP_011514054.1:p.Leu1041TyrfsTer12
XM_011515753.1:c.2789del	XP_011514055.1:p.Leu930TyrfsTer12
XM_011515754.1:c.2789del	XP_011514056.1:p.Leu930TyrfsTer12
NM_000492.4:c.3032del MANE Select	NP_000483.3:p.Leu1011TyrfsTer12