Canonical Allele Identifier: CA1737384876

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610568_117610571delinsCCTA , CM000669.2:g.117610568_117610571delinsCCTA	GRCh38
NC_000007.13:g.117250622_117250625delinsCCTA , CM000669.1:g.117250622_117250625delinsCCTA	GRCh37
NC_000007.12:g.117037858_117037861delinsCCTA	NCBI36
NG_016465.4:g.149785_149788delinsCCTA , LRG_663:g.149785_149788delinsCCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3038_3041delinsCCTA	ENSP00000497673.2:p.Pro1013=
ENST00000647978.2:c.*2752_*2755delinsCCTA	ENSP00000497658.1:n.*2752_*2755delinsCCTA...
ENST00000649781.2:c.2855_2858delinsCCTA	ENSP00000497203.1:p.Pro952=
ENST00000685018.2:c.3038_3041delinsCCTA	ENSP00000510194.2:p.Pro1013=
ENST00000687278.2:c.3038_3041delinsCCTA	ENSP00000509593.2:p.Pro1013=
ENST00000699585.1:c.3038_3041delinsCCTA	ENSP00000514456.1:p.Pro1013=
ENST00000699598.1:c.3038_3041delinsCCTA	ENSP00000514467.1:p.Pro1013=
ENST00000699599.1:c.3038_3041delinsCCTA	ENSP00000514468.1:p.Pro1013=
ENST00000699600.1:c.3038_3041delinsCCTA	ENSP00000514469.1:p.Pro1013=
ENST00000699601.1:c.*1338_*1341delinsCCTA	ENSP00000514470.1:n.*1338_*1341delinsCCTA...
ENST00000699602.1:c.3038_3041delinsCCTA	ENSP00000514471.1:p.Pro1013=
ENST00000699604.1:c.*2862_*2865delinsCCTA	ENSP00000514472.1:n.*2862_*2865delinsCCTA...
ENST00000699605.1:c.2612_2615delinsCCTA	ENSP00000514473.1:p.Pro871=
ENST00000687278.1:c.629_632delinsCCTA	ENSP00000509593.1:p.Pro210=
ENST00000003084.11:c.3038_3041delinsCCTA MANE Select	ENSP00000003084.6:p.Pro1013=
ENST00000647720.1:c.688_691delinsCCTA
ENST00000648260.1:c.1820_1823delinsCCTA	ENSP00000497957.1:p.Pro607=
ENST00000649406.1:c.2855_2858delinsCCTA	ENSP00000497965.1:p.Pro952=
ENST00000649781.1:c.2855_2858delinsCCTA	ENSP00000497203.1:p.Pro952=
ENST00000003084.10:c.3038_3041delinsCCTA	ENSP00000003084.6:p.Pro1013=
ENST00000426809.5:c.2948_2951delinsCCTA	ENSP00000389119.1:p.Pro983=
NM_000492.3:c.3038_3041delinsCCTA , LRG_663t1:c.3038_3041delinsCCTA	NP_000483.3:p.Pro1013=
XM_011515751.1:c.3128_3131delinsCCTA	XP_011514053.1:p.Pro1043=
XM_011515752.1:c.3128_3131delinsCCTA	XP_011514054.1:p.Pro1043=
XM_011515753.1:c.2795_2798delinsCCTA	XP_011514055.1:p.Pro932=
XM_011515754.1:c.2795_2798delinsCCTA	XP_011514056.1:p.Pro932=
NM_000492.4:c.3038_3041delinsCCTA MANE Select	NP_000483.3:p.Pro1013=