Canonical Allele Identifier: CA1737384429

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610390_117610395delinsAAAAAT , CM000669.2:g.117610390_117610395delinsAAAAAT	GRCh38
NC_000007.13:g.117250444_117250449delinsAAAAAT , CM000669.1:g.117250444_117250449delinsAAAAAT	GRCh37
NC_000007.12:g.117037680_117037685delinsAAAAAT	NCBI36
NG_016465.4:g.149607_149612delinsAAAAAT , LRG_663:g.149607_149612delinsAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-129_2989-124delinsAAAAAT	ENSP00000497673.2:n.2989-129_2989-124delinsAAAAAT
ENST00000647978.2:c.*2703-129_*2703-124delinsAAAAAT	ENSP00000497658.1:n.*2703-129_*2703-124delinsAAAAAT
ENST00000649781.2:c.2806-129_2806-124delinsAAAAAT	ENSP00000497203.1:n.2806-129_2806-124delinsAAAAAT
ENST00000685018.2:c.2989-129_2989-124delinsAAAAAT	ENSP00000510194.2:n.2989-129_2989-124delinsAAAAAT
ENST00000687278.2:c.2989-129_2989-124delinsAAAAAT	ENSP00000509593.2:n.2989-129_2989-124delinsAAAAAT
ENST00000699585.1:c.2989-129_2989-124delinsAAAAAT	ENSP00000514456.1:n.2989-129_2989-124delinsAAAAAT
ENST00000699598.1:c.2989-129_2989-124delinsAAAAAT	ENSP00000514467.1:n.2989-129_2989-124delinsAAAAAT
ENST00000699599.1:c.2989-129_2989-124delinsAAAAAT	ENSP00000514468.1:n.2989-129_2989-124delinsAAAAAT
ENST00000699600.1:c.2989-129_2989-124delinsAAAAAT	ENSP00000514469.1:n.2989-129_2989-124delinsAAAAAT
ENST00000699601.1:c.*1289-129_*1289-124delinsAAAAAT	ENSP00000514470.1:n.*1289-129_*1289-124delinsAAAAAT
ENST00000699602.1:c.2989-129_2989-124delinsAAAAAT	ENSP00000514471.1:n.2989-129_2989-124delinsAAAAAT
ENST00000699604.1:c.*2813-129_*2813-124delinsAAAAAT	ENSP00000514472.1:n.*2813-129_*2813-124delinsAAAAAT
ENST00000699605.1:c.2563-129_2563-124delinsAAAAAT	ENSP00000514473.1:n.2563-129_2563-124delinsAAAAAT
ENST00000687278.1:c.580-129_580-124delinsAAAAAT	ENSP00000509593.1:n.580-129_580-124delinsAAAAAT
ENST00000003084.11:c.2989-129_2989-124delinsAAAAAT MANE Select	ENSP00000003084.6:n.2989-129_2989-124delinsAAAAAT
ENST00000647720.1:c.639-129_639-124delinsAAAAAT
ENST00000648260.1:c.1771-129_1771-124delinsAAAAAT	ENSP00000497957.1:n.1771-129_1771-124delinsAAAAAT
ENST00000649406.1:c.2806-129_2806-124delinsAAAAAT	ENSP00000497965.1:n.2806-129_2806-124delinsAAAAAT
ENST00000649781.1:c.2806-129_2806-124delinsAAAAAT	ENSP00000497203.1:n.2806-129_2806-124delinsAAAAAT
ENST00000003084.10:c.2989-129_2989-124delinsAAAAAT	ENSP00000003084.6:n.2989-129_2989-124delinsAAAAAT
ENST00000426809.5:c.2899-129_2899-124delinsAAAAAT	ENSP00000389119.1:n.2899-129_2899-124delinsAAAAAT
NM_000492.3:c.2989-129_2989-124delinsAAAAAT , LRG_663t1:c.2989-129_2989-124delinsAAAAAT	NP_000483.3:n.2989-129_2989-124delinsAAAAAT
XM_011515751.1:c.3079-129_3079-124delinsAAAAAT	XP_011514053.1:n.3079-129_3079-124delinsAAAAAT
XM_011515752.1:c.3079-129_3079-124delinsAAAAAT	XP_011514054.1:n.3079-129_3079-124delinsAAAAAT
XM_011515753.1:c.2746-129_2746-124delinsAAAAAT	XP_011514055.1:n.2746-129_2746-124delinsAAAAAT
XM_011515754.1:c.2746-129_2746-124delinsAAAAAT	XP_011514056.1:n.2746-129_2746-124delinsAAAAAT
NM_000492.4:c.2989-129_2989-124delinsAAAAAT MANE Select	NP_000483.3:n.2989-129_2989-124delinsAAAAAT