Canonical Allele Identifier: CA2580076324

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1725150
• ClinVar RCV Id: RCV002308209

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587826_117587827del , CM000669.2:g.117587826_117587827del	GRCh38
NC_000007.13:g.117227880_117227881del , CM000669.1:g.117227880_117227881del	GRCh37
NC_000007.12:g.117015116_117015117del	NCBI36
NG_016465.4:g.127043_127044del , LRG_663:g.127043_127044del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1672_1673del	ENSP00000497673.2:p.Leu558SerfsTer9
ENST00000647978.2:c.*1386_*1387del	ENSP00000497658.1:n.*1386_*1387del
ENST00000649781.2:c.1489_1490del	ENSP00000497203.1:p.Leu497SerfsTer9
ENST00000685018.2:c.1672_1673del	ENSP00000510194.2:p.Leu558SerfsTer9
ENST00000687278.2:c.1672_1673del	ENSP00000509593.2:p.Leu558SerfsTer9
ENST00000699585.1:c.1672_1673del	ENSP00000514456.1:p.Leu558SerfsTer9
ENST00000699598.1:c.1672_1673del	ENSP00000514467.1:p.Leu558SerfsTer9
ENST00000699599.1:c.1672_1673del	ENSP00000514468.1:p.Leu558SerfsTer9
ENST00000699600.1:c.1672_1673del	ENSP00000514469.1:p.Leu558SerfsTer9
ENST00000699601.1:c.1672_1673del	ENSP00000514470.1:p.Leu558SerfsTer12
ENST00000699602.1:c.1672_1673del	ENSP00000514471.1:p.Leu558SerfsTer9
ENST00000699604.1:c.*1496_*1497del	ENSP00000514472.1:n.*1496_*1497del
ENST00000699605.1:c.1246_1247del	ENSP00000514473.1:p.Leu416SerfsTer9
ENST00000003084.11:c.1672_1673del MANE Select	ENSP00000003084.6:p.Leu558SerfsTer9
ENST00000647978.1:c.*1386_*1387del	ENSP00000497658.1:n.*1386_*1387del
ENST00000648260.1:c.1402-15000_1402-14999del	ENSP00000497957.1:n.1402-15000_1402-14999...
ENST00000649406.1:c.1489_1490del	ENSP00000497965.1:p.Leu497SerfsTer9
ENST00000649781.1:c.1489_1490del	ENSP00000497203.1:p.Leu497SerfsTer9
ENST00000003084.10:c.1672_1673del	ENSP00000003084.6:p.Leu558SerfsTer9
ENST00000426809.5:c.1582_1583del	ENSP00000389119.1:p.Leu528SerfsTer9
NM_000492.3:c.1672_1673del , LRG_663t1:c.1672_1673del	NP_000483.3:p.Leu558SerfsTer9
XM_011515751.1:c.1762_1763del	XP_011514053.1:p.Leu588SerfsTer9
XM_011515752.1:c.1762_1763del	XP_011514054.1:p.Leu588SerfsTer9
XM_011515753.1:c.1429_1430del	XP_011514055.1:p.Leu477SerfsTer9
XM_011515754.1:c.1429_1430del	XP_011514056.1:p.Leu477SerfsTer9
NM_000492.4:c.1672_1673del MANE Select	NP_000483.3:p.Leu558SerfsTer9