Canonical Allele Identifier: CA2580617092

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1069549
• ClinVar RCV Id: RCV001381447
• dbSNP Id: rs2116669950

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530925_117530926del , CM000669.2:g.117530925_117530926del	GRCh38
NC_000007.13:g.117170979_117170980del , CM000669.1:g.117170979_117170980del	GRCh37
NC_000007.12:g.116958215_116958216del	NCBI36
NG_016465.4:g.70142_70143del , LRG_663:g.70142_70143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.300_301del	ENSP00000497673.2:p.Leu101ThrfsTer9
ENST00000647978.2:c.*197_*198del	ENSP00000497658.1:n.*197_*198del
ENST00000649781.2:c.300_301del	ENSP00000497203.1:p.Leu101ThrfsTer9
ENST00000685018.2:c.300_301del	ENSP00000510194.2:p.Leu101ThrfsTer9
ENST00000687278.2:c.300_301del	ENSP00000509593.2:p.Leu101ThrfsTer9
ENST00000699585.1:c.300_301del	ENSP00000514456.1:p.Leu101ThrfsTer9
ENST00000699596.1:c.300_301del	ENSP00000514465.1:p.Leu101ThrfsTer9
ENST00000699597.1:c.300_301del	ENSP00000514466.1:p.Leu101ThrfsTer9
ENST00000699598.1:c.300_301del	ENSP00000514467.1:p.Leu101ThrfsTer9
ENST00000699599.1:c.300_301del	ENSP00000514468.1:p.Leu101ThrfsTer9
ENST00000699600.1:c.300_301del	ENSP00000514469.1:p.Leu101ThrfsTer9
ENST00000699601.1:c.300_301del	ENSP00000514470.1:p.Leu101ThrfsTer9
ENST00000699602.1:c.300_301del	ENSP00000514471.1:p.Leu101ThrfsTer9
ENST00000699604.1:c.*124_*125del	ENSP00000514472.1:n.*124_*125del
ENST00000699605.1:c.57_58del	ENSP00000514473.1:p.Leu20ThrfsTer9
ENST00000446805.2:c.57_58del	ENSP00000417012.1:p.Leu20ThrfsTer9
ENST00000003084.11:c.300_301del MANE Select	ENSP00000003084.6:p.Leu101ThrfsTer9
ENST00000647978.1:c.*197_*198del	ENSP00000497658.1:n.*197_*198del
ENST00000648260.1:c.300_301del	ENSP00000497957.1:p.Leu101ThrfsTer9
ENST00000649406.1:c.300_301del	ENSP00000497965.1:p.Leu101ThrfsTer9
ENST00000649781.1:c.300_301del	ENSP00000497203.1:p.Leu101ThrfsTer9
ENST00000673785.1:c.57_58del	ENSP00000501235.1:p.Leu20ThrfsTer9
ENST00000003084.10:c.300_301del	ENSP00000003084.6:p.Leu101ThrfsTer9
ENST00000426809.5:c.300_301del	ENSP00000389119.1:p.Leu101ThrfsTer9
ENST00000446805.1:c.57_58del	ENSP00000417012.1:p.Leu20ThrfsTer9
NM_000492.3:c.300_301del , LRG_663t1:c.300_301del	NP_000483.3:p.Leu101ThrfsTer9
XM_011515751.1:c.390_391del	XP_011514053.1:p.Leu131ThrfsTer9
XM_011515752.1:c.390_391del	XP_011514054.1:p.Leu131ThrfsTer9
XM_011515753.1:c.57_58del	XP_011514055.1:p.Leu20ThrfsTer9
XM_011515754.1:c.57_58del	XP_011514056.1:p.Leu20ThrfsTer9
NM_000492.4:c.300_301del MANE Select	NP_000483.3:p.Leu101ThrfsTer9