Canonical Allele Identifier: CA1737390499

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587803_117587804delinsGA , CM000669.2:g.117587803_117587804delinsGA	GRCh38
NC_000007.13:g.117227857_117227858delinsGA , CM000669.1:g.117227857_117227858delinsGA	GRCh37
NC_000007.12:g.117015093_117015094delinsGA	NCBI36
NG_016465.4:g.127020_127021delinsGA , LRG_663:g.127020_127021delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1649_1650delinsGA	ENSP00000497673.2:p.Gly550=
ENST00000647978.2:c.*1363_*1364delinsGA	ENSP00000497658.1:n.*1363_*1364delinsGA
ENST00000649781.2:c.1466_1467delinsGA	ENSP00000497203.1:p.Gly489=
ENST00000685018.2:c.1649_1650delinsGA	ENSP00000510194.2:p.Gly550=
ENST00000687278.2:c.1649_1650delinsGA	ENSP00000509593.2:p.Gly550=
ENST00000699585.1:c.1649_1650delinsGA	ENSP00000514456.1:p.Gly550=
ENST00000699598.1:c.1649_1650delinsGA	ENSP00000514467.1:p.Gly550=
ENST00000699599.1:c.1649_1650delinsGA	ENSP00000514468.1:p.Gly550=
ENST00000699600.1:c.1649_1650delinsGA	ENSP00000514469.1:p.Gly550=
ENST00000699601.1:c.1649_1650delinsGA	ENSP00000514470.1:p.Gly550=
ENST00000699602.1:c.1649_1650delinsGA	ENSP00000514471.1:p.Gly550=
ENST00000699604.1:c.*1473_*1474delinsGA	ENSP00000514472.1:n.*1473_*1474delinsGA
ENST00000699605.1:c.1223_1224delinsGA	ENSP00000514473.1:p.Gly408=
ENST00000003084.11:c.1649_1650delinsGA MANE Select	ENSP00000003084.6:p.Gly550=
ENST00000647978.1:c.*1363_*1364delinsGA	ENSP00000497658.1:n.*1363_*1364delinsGA
ENST00000648260.1:c.1402-15023_1402-15022delinsGA	ENSP00000497957.1:n.1402-15023_1402-15022delinsGA
ENST00000649406.1:c.1466_1467delinsGA	ENSP00000497965.1:p.Gly489=
ENST00000649781.1:c.1466_1467delinsGA	ENSP00000497203.1:p.Gly489=
ENST00000003084.10:c.1649_1650delinsGA	ENSP00000003084.6:p.Gly550=
ENST00000426809.5:c.1559_1560delinsGA	ENSP00000389119.1:p.Gly520=
NM_000492.3:c.1649_1650delinsGA , LRG_663t1:c.1649_1650delinsGA	NP_000483.3:p.Gly550=
XM_011515751.1:c.1739_1740delinsGA	XP_011514053.1:p.Gly580=
XM_011515752.1:c.1739_1740delinsGA	XP_011514054.1:p.Gly580=
XM_011515753.1:c.1406_1407delinsGA	XP_011514055.1:p.Gly469=
XM_011515754.1:c.1406_1407delinsGA	XP_011514056.1:p.Gly469=
NM_000492.4:c.1649_1650delinsGA MANE Select	NP_000483.3:p.Gly550=