Canonical Allele Identifier: CA1737375359

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603724_117603725delinsCA , CM000669.2:g.117603724_117603725delinsCA	GRCh38
NC_000007.13:g.117243778_117243779delinsCA , CM000669.1:g.117243778_117243779delinsCA	GRCh37
NC_000007.12:g.117031014_117031015delinsCA	NCBI36
NG_016465.4:g.142941_142942delinsCA , LRG_663:g.142941_142942delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2850_2851delinsCA	ENSP00000497673.2:p.His950=
ENST00000647978.2:c.*2564_*2565delinsCA	ENSP00000497658.1:n.*2564_*2565delinsCA
ENST00000649781.2:c.2667_2668delinsCA	ENSP00000497203.1:p.His889=
ENST00000685018.2:c.2850_2851delinsCA	ENSP00000510194.2:p.His950=
ENST00000687278.2:c.2850_2851delinsCA	ENSP00000509593.2:p.His950=
ENST00000699585.1:c.2850_2851delinsCA	ENSP00000514456.1:p.His950=
ENST00000699598.1:c.2850_2851delinsCA	ENSP00000514467.1:p.His950=
ENST00000699599.1:c.2850_2851delinsCA	ENSP00000514468.1:p.His950=
ENST00000699600.1:c.2850_2851delinsCA	ENSP00000514469.1:p.His950=
ENST00000699601.1:c.*1150_*1151delinsCA	ENSP00000514470.1:n.*1150_*1151delinsCA
ENST00000699602.1:c.2850_2851delinsCA	ENSP00000514471.1:p.His950=
ENST00000699604.1:c.*2674_*2675delinsCA	ENSP00000514472.1:n.*2674_*2675delinsCA
ENST00000699605.1:c.2424_2425delinsCA	ENSP00000514473.1:p.His808=
ENST00000687278.1:c.441_442delinsCA	ENSP00000509593.1:p.His147=
ENST00000003084.11:c.2850_2851delinsCA MANE Select	ENSP00000003084.6:p.His950=
ENST00000647720.1:c.500_501delinsCA
ENST00000648260.1:c.1632_1633delinsCA	ENSP00000497957.1:p.His544=
ENST00000649406.1:c.2667_2668delinsCA	ENSP00000497965.1:p.His889=
ENST00000649781.1:c.2667_2668delinsCA	ENSP00000497203.1:p.His889=
ENST00000003084.10:c.2850_2851delinsCA	ENSP00000003084.6:p.His950=
ENST00000426809.5:c.2760_2761delinsCA	ENSP00000389119.1:p.His920=
NM_000492.3:c.2850_2851delinsCA , LRG_663t1:c.2850_2851delinsCA	NP_000483.3:p.His950=
XM_011515751.1:c.2940_2941delinsCA	XP_011514053.1:p.His980=
XM_011515752.1:c.2940_2941delinsCA	XP_011514054.1:p.His980=
XM_011515753.1:c.2607_2608delinsCA	XP_011514055.1:p.His869=
XM_011515754.1:c.2607_2608delinsCA	XP_011514056.1:p.His869=
NM_000492.4:c.2850_2851delinsCA MANE Select	NP_000483.3:p.His950=