Canonical Allele Identifier: CA1737384071

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610067_117610068delinsTG , CM000669.2:g.117610067_117610068delinsTG	GRCh38
NC_000007.13:g.117250121_117250122delinsTG , CM000669.1:g.117250121_117250122delinsTG	GRCh37
NC_000007.12:g.117037357_117037358delinsTG	NCBI36
NG_016465.4:g.149284_149285delinsTG , LRG_663:g.149284_149285delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-452_2989-451delinsTG	ENSP00000497673.2:n.2989-452_2989-451delinsTG
ENST00000647978.2:c.*2703-452_*2703-451delinsTG	ENSP00000497658.1:n.*2703-452_*2703-451delinsTG
ENST00000649781.2:c.2806-452_2806-451delinsTG	ENSP00000497203.1:n.2806-452_2806-451delinsTG
ENST00000685018.2:c.2989-452_2989-451delinsTG	ENSP00000510194.2:n.2989-452_2989-451delinsTG
ENST00000687278.2:c.2989-452_2989-451delinsTG	ENSP00000509593.2:n.2989-452_2989-451delinsTG
ENST00000699585.1:c.2989-452_2989-451delinsTG	ENSP00000514456.1:n.2989-452_2989-451delinsTG
ENST00000699598.1:c.2989-452_2989-451delinsTG	ENSP00000514467.1:n.2989-452_2989-451delinsTG
ENST00000699599.1:c.2989-452_2989-451delinsTG	ENSP00000514468.1:n.2989-452_2989-451delinsTG
ENST00000699600.1:c.2989-452_2989-451delinsTG	ENSP00000514469.1:n.2989-452_2989-451delinsTG
ENST00000699601.1:c.*1289-452_*1289-451delinsTG	ENSP00000514470.1:n.*1289-452_*1289-451delinsTG
ENST00000699602.1:c.2989-452_2989-451delinsTG	ENSP00000514471.1:n.2989-452_2989-451delinsTG
ENST00000699604.1:c.*2813-452_*2813-451delinsTG	ENSP00000514472.1:n.*2813-452_*2813-451delinsTG
ENST00000699605.1:c.2563-452_2563-451delinsTG	ENSP00000514473.1:n.2563-452_2563-451delinsTG
ENST00000687278.1:c.580-452_580-451delinsTG	ENSP00000509593.1:n.580-452_580-451delinsTG
ENST00000003084.11:c.2989-452_2989-451delinsTG MANE Select	ENSP00000003084.6:n.2989-452_2989-451delinsTG
ENST00000647720.1:c.639-452_639-451delinsTG
ENST00000648260.1:c.1771-452_1771-451delinsTG	ENSP00000497957.1:n.1771-452_1771-451delinsTG
ENST00000649406.1:c.2806-452_2806-451delinsTG	ENSP00000497965.1:n.2806-452_2806-451delinsTG
ENST00000649781.1:c.2806-452_2806-451delinsTG	ENSP00000497203.1:n.2806-452_2806-451delinsTG
ENST00000003084.10:c.2989-452_2989-451delinsTG	ENSP00000003084.6:n.2989-452_2989-451delinsTG
ENST00000426809.5:c.2899-452_2899-451delinsTG	ENSP00000389119.1:n.2899-452_2899-451delinsTG
NM_000492.3:c.2989-452_2989-451delinsTG , LRG_663t1:c.2989-452_2989-451delinsTG	NP_000483.3:n.2989-452_2989-451delinsTG
XM_011515751.1:c.3079-452_3079-451delinsTG	XP_011514053.1:n.3079-452_3079-451delinsTG
XM_011515752.1:c.3079-452_3079-451delinsTG	XP_011514054.1:n.3079-452_3079-451delinsTG
XM_011515753.1:c.2746-452_2746-451delinsTG	XP_011514055.1:n.2746-452_2746-451delinsTG
XM_011515754.1:c.2746-452_2746-451delinsTG	XP_011514056.1:n.2746-452_2746-451delinsTG
NM_000492.4:c.2989-452_2989-451delinsTG MANE Select	NP_000483.3:n.2989-452_2989-451delinsTG