Canonical Allele Identifier: CA1737392334
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590385_117590387delinsTAG , CM000669.2:g.117590385_117590387delinsTAG GRCh38
NC_000007.13:g.117230439_117230441delinsTAG , CM000669.1:g.117230439_117230441delinsTAG GRCh37
NC_000007.12:g.117017675_117017677delinsTAG NCBI36
NG_016465.4:g.129602_129604delinsTAG , LRG_663:g.129602_129604delinsTAG

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1712_1714delinsTAG ENSP00000497673.2:p.Leu571=
ENST00000647978.2:c.*1426_*1428delinsTAG ENSP00000497658.1:n.*1426_*1428delinsTAG
ENST00000649781.2:c.1529_1531delinsTAG ENSP00000497203.1:p.Leu510=
ENST00000685018.2:c.1712_1714delinsTAG ENSP00000510194.2:p.Leu571=
ENST00000687278.2:c.1712_1714delinsTAG ENSP00000509593.2:p.Leu571=
ENST00000699585.1:c.1712_1714delinsTAG ENSP00000514456.1:p.Leu571=
ENST00000699598.1:c.1712_1714delinsTAG ENSP00000514467.1:p.Leu571=
ENST00000699599.1:c.1712_1714delinsTAG ENSP00000514468.1:p.Leu571=
ENST00000699600.1:c.1712_1714delinsTAG ENSP00000514469.1:p.Leu571=
ENST00000699601.1:c.*12_*14delinsTAG ENSP00000514470.1:n.*12_*14delinsTAG
ENST00000699602.1:c.1712_1714delinsTAG ENSP00000514471.1:p.Leu571=
ENST00000699604.1:c.*1536_*1538delinsTAG ENSP00000514472.1:n.*1536_*1538delinsTAG
ENST00000699605.1:c.1286_1288delinsTAG ENSP00000514473.1:p.Leu429=
ENST00000003084.11:c.1712_1714delinsTAG MANE Select ENSP00000003084.6:p.Leu571=
ENST00000647978.1:c.*1426_*1428delinsTAG ENSP00000497658.1:n.*1426_*1428delinsTAG
ENST00000648260.1:c.1402-12441_1402-12439delinsTAG ENSP00000497957.1:n.1402-12441_1402-12439...
ENST00000649406.1:c.1529_1531delinsTAG ENSP00000497965.1:p.Leu510=
ENST00000649781.1:c.1529_1531delinsTAG ENSP00000497203.1:p.Leu510=
ENST00000003084.10:c.1712_1714delinsTAG ENSP00000003084.6:p.Leu571=
ENST00000426809.5:c.1622_1624delinsTAG ENSP00000389119.1:p.Leu541=
NM_000492.3:c.1712_1714delinsTAG , LRG_663t1:c.1712_1714delinsTAG NP_000483.3:p.Leu571=
XM_011515751.1:c.1802_1804delinsTAG XP_011514053.1:p.Leu601=
XM_011515752.1:c.1802_1804delinsTAG XP_011514054.1:p.Leu601=
XM_011515753.1:c.1469_1471delinsTAG XP_011514055.1:p.Leu490=
XM_011515754.1:c.1469_1471delinsTAG XP_011514056.1:p.Leu490=
NM_000492.4:c.1712_1714delinsTAG MANE Select NP_000483.3:p.Leu571=