Canonical Allele Identifier: CA2527569372

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614374_117614375insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC , CM000669.2:g.117614374_117614375insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	GRCh38
NC_000007.13:g.117254428_117254429insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC , CM000669.1:g.117254428_117254429insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	GRCh37
NC_000007.12:g.117041664_117041665insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	NCBI36
NG_016465.4:g.153591_153592insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC , LRG_663:g.153591_153592insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497673.2:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000647978.2:c.*3082-239_*3082-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497658.1:n.*3082-239_*3082-238insTGGGGAAAAGAGATCCTGT...
ENST00000649781.2:c.3185-239_3185-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497203.1:n.3185-239_3185-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000685018.2:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000510194.2:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000687278.2:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000509593.2:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000699585.1:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514456.1:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000699598.1:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514467.1:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000699599.1:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514468.1:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000699600.1:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514469.1:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000699601.1:c.*1668-164_*1668-163insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514470.1:n.*1668-164_*1668-163insTGGGGAAAAGAGATCCTGT...
ENST00000699602.1:c.3368-245_3368-244insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514471.1:n.3368-245_3368-244insTGGGGAAAAGAGATCCTGTAT...
ENST00000699604.1:c.*3192-239_*3192-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514472.1:n.*3192-239_*3192-238insTGGGGAAAAGAGATCCTGT...
ENST00000699605.1:c.2942-239_2942-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000514473.1:n.2942-239_2942-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000685018.1:c.116-239_116-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000510194.1:n.116-239_116-238insTGGGGAAAAGAGATCCTGTATCC...
ENST00000687278.1:c.959-239_959-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000509593.1:n.959-239_959-238insTGGGGAAAAGAGATCCTGTATCC...
ENST00000003084.11:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC MANE Select	ENSP00000003084.6:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000647720.1:c.1018-239_1018-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC
ENST00000648260.1:c.2150-239_2150-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497957.1:n.2150-239_2150-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000649406.1:c.3185-239_3185-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497965.1:n.3185-239_3185-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000649781.1:c.3185-239_3185-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000497203.1:n.3185-239_3185-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000003084.10:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000003084.6:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000426809.5:c.3278-239_3278-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	ENSP00000389119.1:n.3278-239_3278-238insTGGGGAAAAGAGATCCTGTAT...
ENST00000468795.1:c.193-239_193-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC
NM_000492.3:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC , LRG_663t1:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	NP_000483.3:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGAT...
XM_011515751.1:c.3458-239_3458-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	XP_011514053.1:n.3458-239_3458-238insTGGGGAAAAGAGATCCTGTATCCA...
XM_011515752.1:c.3458-239_3458-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	XP_011514054.1:n.3458-239_3458-238insTGGGGAAAAGAGATCCTGTATCCA...
XM_011515753.1:c.3125-239_3125-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	XP_011514055.1:n.3125-239_3125-238insTGGGGAAAAGAGATCCTGTATCCA...
XM_011515754.1:c.3125-239_3125-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC	XP_011514056.1:n.3125-239_3125-238insTGGGGAAAAGAGATCCTGTATCCA...
NM_000492.4:c.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGATGAGCTGCTTTACAAAGAGAC MANE Select	NP_000483.3:n.3368-239_3368-238insTGGGGAAAAGAGATCCTGTATCCAGAT...