Canonical Allele Identifier: CA2580076398

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1724310
• ClinVar RCV Id: RCV002309578

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614643_117614644del , CM000669.2:g.117614643_117614644del	GRCh38
NC_000007.13:g.117254697_117254698del , CM000669.1:g.117254697_117254698del	GRCh37
NC_000007.12:g.117041933_117041934del	NCBI36
NG_016465.4:g.153860_153861del , LRG_663:g.153860_153861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3398_3399del	ENSP00000497673.2:p.Leu1133HisfsTer22
ENST00000647978.2:c.*3112_*3113del	ENSP00000497658.1:n.*3112_*3113del
ENST00000649781.2:c.3215_3216del	ENSP00000497203.1:p.Leu1072HisfsTer22
ENST00000685018.2:c.3398_3399del	ENSP00000510194.2:p.Leu1133HisfsTer22
ENST00000687278.2:c.3398_3399del	ENSP00000509593.2:p.Leu1133HisfsTer22
ENST00000699585.1:c.3398_3399del	ENSP00000514456.1:p.Leu1133HisfsTer22
ENST00000699598.1:c.3398_3399del	ENSP00000514467.1:p.Leu1133HisfsTer22
ENST00000699599.1:c.3398_3399del	ENSP00000514468.1:p.Leu1133HisfsTer22
ENST00000699600.1:c.3398_3399del	ENSP00000514469.1:p.Leu1133HisfsTer22
ENST00000699601.1:c.*1773_*1774del	ENSP00000514470.1:n.*1773_*1774del
ENST00000699602.1:c.3392_3393del	ENSP00000514471.1:p.Leu1131HisfsTer22
ENST00000699604.1:c.*3222_*3223del	ENSP00000514472.1:n.*3222_*3223del
ENST00000699605.1:c.2972_2973del	ENSP00000514473.1:p.Leu991HisfsTer22
ENST00000685018.1:c.146_147del	ENSP00000510194.1:p.Leu49HisfsTer22
ENST00000687278.1:c.989_990del	ENSP00000509593.1:p.Leu330HisfsTer22
ENST00000003084.11:c.3398_3399del MANE Select	ENSP00000003084.6:p.Leu1133HisfsTer22
ENST00000647720.1:c.1048_1049del
ENST00000648260.1:c.2180_2181del	ENSP00000497957.1:p.Leu727HisfsTer22
ENST00000649406.1:c.3215_3216del	ENSP00000497965.1:p.Leu1072HisfsTer22
ENST00000649781.1:c.3215_3216del	ENSP00000497203.1:p.Leu1072HisfsTer22
ENST00000003084.10:c.3398_3399del	ENSP00000003084.6:p.Leu1133HisfsTer22
ENST00000426809.5:c.3308_3309del	ENSP00000389119.1:p.Leu1103HisfsTer22
ENST00000468795.1:c.223_224del
NM_000492.3:c.3398_3399del , LRG_663t1:c.3398_3399del	NP_000483.3:p.Leu1133HisfsTer22
XM_011515751.1:c.3488_3489del	XP_011514053.1:p.Leu1163HisfsTer22
XM_011515752.1:c.3488_3489del	XP_011514054.1:p.Leu1163HisfsTer22
XM_011515753.1:c.3155_3156del	XP_011514055.1:p.Leu1052HisfsTer22
XM_011515754.1:c.3155_3156del	XP_011514056.1:p.Leu1052HisfsTer22
NM_000492.4:c.3398_3399del MANE Select	NP_000483.3:p.Leu1133HisfsTer22