Canonical Allele Identifier: CA2580617913

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2579739
• ClinVar RCV Id: RCV003328539

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603733_117603767delinsTCAAG , CM000669.2:g.117603733_117603767delinsTCAAG	GRCh38
NC_000007.13:g.117243787_117243821delinsTCAAG , CM000669.1:g.117243787_117243821delinsTCAAG	GRCh37
NC_000007.12:g.117031023_117031057delinsTCAAG	NCBI36
NG_016465.4:g.142950_142984delinsTCAAG , LRG_663:g.142950_142984delinsTCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2859_2893delinsTCAAG	ENSP00000497673.2:p.Leu953_Asn965delinsPheGlnAsp
ENST00000647978.2:c.*2573_*2607delinsTCAAG	ENSP00000497658.1:n.*2573_*2607delinsTCAAG
ENST00000649781.2:c.2676_2710delinsTCAAG	ENSP00000497203.1:p.Leu892_Asn904delinsPheGlnAsp
ENST00000685018.2:c.2859_2893delinsTCAAG	ENSP00000510194.2:p.Leu953_Asn965delinsPheGlnAsp
ENST00000687278.2:c.2859_2893delinsTCAAG	ENSP00000509593.2:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699585.1:c.2859_2893delinsTCAAG	ENSP00000514456.1:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699598.1:c.2859_2893delinsTCAAG	ENSP00000514467.1:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699599.1:c.2859_2893delinsTCAAG	ENSP00000514468.1:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699600.1:c.2859_2893delinsTCAAG	ENSP00000514469.1:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699601.1:c.*1159_*1193delinsTCAAG	ENSP00000514470.1:n.*1159_*1193delinsTCAAG
ENST00000699602.1:c.2859_2893delinsTCAAG	ENSP00000514471.1:p.Leu953_Asn965delinsPheGlnAsp
ENST00000699604.1:c.*2683_*2717delinsTCAAG	ENSP00000514472.1:n.*2683_*2717delinsTCAAG
ENST00000699605.1:c.2433_2467delinsTCAAG	ENSP00000514473.1:p.Leu811_Asn823delinsPheGlnAsp
ENST00000687278.1:c.450_484delinsTCAAG	ENSP00000509593.1:p.Leu150_Asn162delinsPheGlnAsp
ENST00000003084.11:c.2859_2893delinsTCAAG MANE Select	ENSP00000003084.6:p.Leu953_Asn965delinsPheGlnAsp
ENST00000647720.1:c.509_543delinsTCAAG
ENST00000648260.1:c.1641_1675delinsTCAAG	ENSP00000497957.1:p.Leu547_Asn559delinsPheGlnAsp
ENST00000649406.1:c.2676_2710delinsTCAAG	ENSP00000497965.1:p.Leu892_Asn904delinsPheGlnAsp
ENST00000649781.1:c.2676_2710delinsTCAAG	ENSP00000497203.1:p.Leu892_Asn904delinsPheGlnAsp
ENST00000003084.10:c.2859_2893delinsTCAAG	ENSP00000003084.6:p.Leu953_Asn965delinsPheGlnAsp
ENST00000426809.5:c.2769_2803delinsTCAAG	ENSP00000389119.1:p.Leu923_Asn935delinsPheGlnAsp
NM_000492.3:c.2859_2893delinsTCAAG , LRG_663t1:c.2859_2893delinsTCAAG	NP_000483.3:p.Leu953_Asn965delinsPheGlnAsp
XM_011515751.1:c.2949_2983delinsTCAAG	XP_011514053.1:p.Leu983_Asn995delinsPheGlnAsp
XM_011515752.1:c.2949_2983delinsTCAAG	XP_011514054.1:p.Leu983_Asn995delinsPheGlnAsp
XM_011515753.1:c.2616_2650delinsTCAAG	XP_011514055.1:p.Leu872_Asn884delinsPheGlnAsp
XM_011515754.1:c.2616_2650delinsTCAAG	XP_011514056.1:p.Leu872_Asn884delinsPheGlnAsp
NM_000492.4:c.2859_2893delinsTCAAG MANE Select	NP_000483.3:p.Leu953_Asn965delinsPheGlnAsp