Canonical Allele Identifier: CA260244
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 35877
ClinVar RCV Id: RCV000029532
dbSNP Id: rs193922521

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117531005_117531007dup , CM000669.2:g.117531005_117531007dup GRCh38
NC_000007.13:g.117171059_117171061dup , CM000669.1:g.117171059_117171061dup GRCh37
NC_000007.12:g.116958295_116958297dup NCBI36
NG_016465.4:g.70222_70224dup , LRG_663:g.70222_70224dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.380_382dup ENSP00000497673.2:p.Leu127_Cys128insLeu
ENST00000647978.2:c.*277_*279dup ENSP00000497658.1:n.*277_*279dup
ENST00000649781.2:c.380_382dup ENSP00000497203.1:p.Leu127_Cys128insLeu
ENST00000685018.2:c.380_382dup ENSP00000510194.2:p.Leu127_Cys128insLeu
ENST00000687278.2:c.380_382dup ENSP00000509593.2:p.Leu127_Cys128insLeu
ENST00000699585.1:c.380_382dup ENSP00000514456.1:p.Leu127_Cys128insLeu
ENST00000699596.1:c.380_382dup ENSP00000514465.1:p.Leu127_Cys128insLeu
ENST00000699597.1:c.380_382dup ENSP00000514466.1:p.Leu127_Cys128insLeu
ENST00000699598.1:c.380_382dup ENSP00000514467.1:p.Leu127_Cys128insLeu
ENST00000699599.1:c.380_382dup ENSP00000514468.1:p.Leu127_Cys128insLeu
ENST00000699600.1:c.380_382dup ENSP00000514469.1:p.Leu127_Cys128insLeu
ENST00000699601.1:c.380_382dup ENSP00000514470.1:p.Leu127_Cys128insLeu
ENST00000699602.1:c.380_382dup ENSP00000514471.1:p.Leu127_Cys128insLeu
ENST00000699604.1:c.*204_*206dup ENSP00000514472.1:n.*204_*206dup
ENST00000699605.1:c.137_139dup ENSP00000514473.1:p.Leu46_Cys47insLeu
ENST00000003084.11:c.380_382dup MANE Select ENSP00000003084.6:p.Leu127_Cys128insLeu
ENST00000647978.1:c.*277_*279dup ENSP00000497658.1:n.*277_*279dup
ENST00000648260.1:c.380_382dup ENSP00000497957.1:p.Leu127_Cys128insLeu
ENST00000649406.1:c.380_382dup ENSP00000497965.1:p.Leu127_Cys128insLeu
ENST00000649781.1:c.380_382dup ENSP00000497203.1:p.Leu127_Cys128insLeu
ENST00000673785.1:c.137_139dup ENSP00000501235.1:p.Leu46_Cys47insLeu
ENST00000003084.10:c.380_382dup ENSP00000003084.6:p.Leu127_Cys128insLeu
ENST00000426809.5:c.380_382dup ENSP00000389119.1:p.Leu127_Cys128insLeu
NM_000492.3:c.380_382dup , LRG_663t1:c.380_382dup NP_000483.3:p.Leu127_Cys128insLeu
XM_011515751.1:c.470_472dup XP_011514053.1:p.Leu157_Cys158insLeu
XM_011515752.1:c.470_472dup XP_011514054.1:p.Leu157_Cys158insLeu
XM_011515753.1:c.137_139dup XP_011514055.1:p.Leu46_Cys47insLeu
XM_011515754.1:c.137_139dup XP_011514056.1:p.Leu46_Cys47insLeu
NM_000492.4:c.380_382dup MANE Select NP_000483.3:p.Leu127_Cys128insLeu