Canonical Allele Identifier: CA1737395474

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592550_117592551delinsTC , CM000669.2:g.117592550_117592551delinsTC	GRCh38
NC_000007.13:g.117232604_117232605delinsTC , CM000669.1:g.117232604_117232605delinsTC	GRCh37
NC_000007.12:g.117019840_117019841delinsTC	NCBI36
NG_016465.4:g.131767_131768delinsTC , LRG_663:g.131767_131768delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2383_2384delinsTC	ENSP00000497673.2:p.Ser795=
ENST00000647978.2:c.*2097_*2098delinsTC	ENSP00000497658.1:n.*2097_*2098delinsTC
ENST00000649781.2:c.2200_2201delinsTC	ENSP00000497203.1:p.Ser734=
ENST00000685018.2:c.2383_2384delinsTC	ENSP00000510194.2:p.Ser795=
ENST00000687278.2:c.2383_2384delinsTC	ENSP00000509593.2:p.Ser795=
ENST00000699585.1:c.2383_2384delinsTC	ENSP00000514456.1:p.Ser795=
ENST00000699598.1:c.2383_2384delinsTC	ENSP00000514467.1:p.Ser795=
ENST00000699599.1:c.2383_2384delinsTC	ENSP00000514468.1:p.Ser795=
ENST00000699600.1:c.2383_2384delinsTC	ENSP00000514469.1:p.Ser795=
ENST00000699601.1:c.*683_*684delinsTC	ENSP00000514470.1:n.*683_*684delinsTC
ENST00000699602.1:c.2383_2384delinsTC	ENSP00000514471.1:p.Ser795=
ENST00000699604.1:c.*2207_*2208delinsTC	ENSP00000514472.1:n.*2207_*2208delinsTC
ENST00000699605.1:c.1957_1958delinsTC	ENSP00000514473.1:p.Ser653=
ENST00000003084.11:c.2383_2384delinsTC MANE Select	ENSP00000003084.6:p.Ser795=
ENST00000647720.1:c.33_34delinsTC
ENST00000647978.1:c.*2097_*2098delinsTC	ENSP00000497658.1:n.*2097_*2098delinsTC
ENST00000648260.1:c.1402-10276_1402-10275delinsTC	ENSP00000497957.1:n.1402-10276_1402-10275delinsTC
ENST00000649406.1:c.2200_2201delinsTC	ENSP00000497965.1:p.Ser734=
ENST00000649781.1:c.2200_2201delinsTC	ENSP00000497203.1:p.Ser734=
ENST00000003084.10:c.2383_2384delinsTC	ENSP00000003084.6:p.Ser795=
ENST00000426809.5:c.2293_2294delinsTC	ENSP00000389119.1:p.Ser765=
NM_000492.3:c.2383_2384delinsTC , LRG_663t1:c.2383_2384delinsTC	NP_000483.3:p.Ser795=
XM_011515751.1:c.2473_2474delinsTC	XP_011514053.1:p.Ser825=
XM_011515752.1:c.2473_2474delinsTC	XP_011514054.1:p.Ser825=
XM_011515753.1:c.2140_2141delinsTC	XP_011514055.1:p.Ser714=
XM_011515754.1:c.2140_2141delinsTC	XP_011514056.1:p.Ser714=
NM_000492.4:c.2383_2384delinsTC MANE Select	NP_000483.3:p.Ser795=