Canonical Allele Identifier: CA1737393799

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591952_117591954delinsGGC , CM000669.2:g.117591952_117591954delinsGGC	GRCh38
NC_000007.13:g.117232006_117232008delinsGGC , CM000669.1:g.117232006_117232008delinsGGC	GRCh37
NC_000007.12:g.117019242_117019244delinsGGC	NCBI36
NG_016465.4:g.131169_131171delinsGGC , LRG_663:g.131169_131171delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1785_1787delinsGGC	ENSP00000497673.2:p.Met595=
ENST00000647978.2:c.*1499_*1501delinsGGC	ENSP00000497658.1:n.*1499_*1501delinsGGC
ENST00000649781.2:c.1602_1604delinsGGC	ENSP00000497203.1:p.Met534=
ENST00000685018.2:c.1785_1787delinsGGC	ENSP00000510194.2:p.Met595=
ENST00000687278.2:c.1785_1787delinsGGC	ENSP00000509593.2:p.Met595=
ENST00000699585.1:c.1785_1787delinsGGC	ENSP00000514456.1:p.Met595=
ENST00000699598.1:c.1785_1787delinsGGC	ENSP00000514467.1:p.Met595=
ENST00000699599.1:c.1785_1787delinsGGC	ENSP00000514468.1:p.Met595=
ENST00000699600.1:c.1785_1787delinsGGC	ENSP00000514469.1:p.Met595=
ENST00000699601.1:c.*85_*87delinsGGC	ENSP00000514470.1:n.*85_*87delinsGGC
ENST00000699602.1:c.1785_1787delinsGGC	ENSP00000514471.1:p.Met595=
ENST00000699604.1:c.*1609_*1611delinsGGC	ENSP00000514472.1:n.*1609_*1611delinsGGC
ENST00000699605.1:c.1359_1361delinsGGC	ENSP00000514473.1:p.Met453=
ENST00000003084.11:c.1785_1787delinsGGC MANE Select	ENSP00000003084.6:p.Met595=
ENST00000647978.1:c.*1499_*1501delinsGGC	ENSP00000497658.1:n.*1499_*1501delinsGGC
ENST00000648260.1:c.1402-10874_1402-10872delinsGGC	ENSP00000497957.1:n.1402-10874_1402-10872delinsGGC
ENST00000649406.1:c.1602_1604delinsGGC	ENSP00000497965.1:p.Met534=
ENST00000649781.1:c.1602_1604delinsGGC	ENSP00000497203.1:p.Met534=
ENST00000003084.10:c.1785_1787delinsGGC	ENSP00000003084.6:p.Met595=
ENST00000426809.5:c.1695_1697delinsGGC	ENSP00000389119.1:p.Met565=
NM_000492.3:c.1785_1787delinsGGC , LRG_663t1:c.1785_1787delinsGGC	NP_000483.3:p.Met595=
XM_011515751.1:c.1875_1877delinsGGC	XP_011514053.1:p.Met625=
XM_011515752.1:c.1875_1877delinsGGC	XP_011514054.1:p.Met625=
XM_011515753.1:c.1542_1544delinsGGC	XP_011514055.1:p.Met514=
XM_011515754.1:c.1542_1544delinsGGC	XP_011514056.1:p.Met514=
NM_000492.4:c.1785_1787delinsGGC MANE Select	NP_000483.3:p.Met595=