Canonical Allele Identifier: CA3005121418

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642493del , CM000669.2:g.117642493del	GRCh38
NC_000007.13:g.117282547del , CM000669.1:g.117282547del	GRCh37
NC_000007.12:g.117069783del	NCBI36
NG_016465.4:g.181710del , LRG_663:g.181710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3573del	ENSP00000497673.2:p.Phe1191LeufsTer?
ENST00000647978.2:c.*3487del	ENSP00000497658.1:n.*3487del
ENST00000649781.2:c.3590del	ENSP00000497203.1:p.Leu1197Ter
ENST00000685018.2:c.3773del	ENSP00000510194.2:p.Leu1258Ter
ENST00000687278.2:c.*426del	ENSP00000509593.2:n.*426del
ENST00000699585.1:c.3573del	ENSP00000514456.1:p.Phe1191LeufsTer?
ENST00000699598.1:c.3773del	ENSP00000514467.1:p.Leu1258Ter
ENST00000699599.1:c.3773del	ENSP00000514468.1:p.Leu1258Ter
ENST00000699600.1:c.*434del	ENSP00000514469.1:n.*434del
ENST00000699601.1:c.*2148del	ENSP00000514470.1:n.*2148del
ENST00000699602.1:c.3767del	ENSP00000514471.1:p.Leu1256Ter
ENST00000699604.1:c.*3597del	ENSP00000514472.1:n.*3597del
ENST00000699605.1:c.3347del	ENSP00000514473.1:p.Leu1116Ter
ENST00000685018.1:c.521del	ENSP00000510194.1:p.Leu174Ter
ENST00000687278.1:c.1560del	ENSP00000509593.1:n.1560del
ENST00000689011.1:c.355del
ENST00000003084.11:c.3773del MANE Select	ENSP00000003084.6:p.Leu1258Ter
ENST00000647720.1:c.1223del
ENST00000649781.1:c.3590del	ENSP00000497203.1:p.Leu1197Ter
ENST00000003084.10:c.3773del	ENSP00000003084.6:p.Leu1258Ter
ENST00000426809.5:c.3683del	ENSP00000389119.1:p.Leu1228Ter
NM_000492.3:c.3773del , LRG_663t1:c.3773del	NP_000483.3:p.Leu1258Ter
XM_011515751.1:c.3863del	XP_011514053.1:p.Leu1288Ter
XM_011515752.1:c.3863del	XP_011514054.1:p.Leu1288Ter
XM_011515753.1:c.3530del	XP_011514055.1:p.Leu1177Ter
XM_011515754.1:c.3530del	XP_011514056.1:p.Leu1177Ter
NM_000492.4:c.3773del MANE Select	NP_000483.3:p.Leu1258Ter