Canonical Allele Identifier: CA1737384537

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610436_117610439delinsAAAG , CM000669.2:g.117610436_117610439delinsAAAG	GRCh38
NC_000007.13:g.117250490_117250493delinsAAAG , CM000669.1:g.117250490_117250493delinsAAAG	GRCh37
NC_000007.12:g.117037726_117037729delinsAAAG	NCBI36
NG_016465.4:g.149653_149656delinsAAAG , LRG_663:g.149653_149656delinsAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989-83_2989-80delinsAAAG	ENSP00000497673.2:n.2989-83_2989-80delins...
ENST00000647978.2:c.*2703-83_*2703-80delinsAAAG	ENSP00000497658.1:n.*2703-83_*2703-80deli...
ENST00000649781.2:c.2806-83_2806-80delinsAAAG	ENSP00000497203.1:n.2806-83_2806-80delins...
ENST00000685018.2:c.2989-83_2989-80delinsAAAG	ENSP00000510194.2:n.2989-83_2989-80delins...
ENST00000687278.2:c.2989-83_2989-80delinsAAAG	ENSP00000509593.2:n.2989-83_2989-80delins...
ENST00000699585.1:c.2989-83_2989-80delinsAAAG	ENSP00000514456.1:n.2989-83_2989-80delins...
ENST00000699598.1:c.2989-83_2989-80delinsAAAG	ENSP00000514467.1:n.2989-83_2989-80delins...
ENST00000699599.1:c.2989-83_2989-80delinsAAAG	ENSP00000514468.1:n.2989-83_2989-80delins...
ENST00000699600.1:c.2989-83_2989-80delinsAAAG	ENSP00000514469.1:n.2989-83_2989-80delins...
ENST00000699601.1:c.*1289-83_*1289-80delinsAAAG	ENSP00000514470.1:n.*1289-83_*1289-80deli...
ENST00000699602.1:c.2989-83_2989-80delinsAAAG	ENSP00000514471.1:n.2989-83_2989-80delins...
ENST00000699604.1:c.*2813-83_*2813-80delinsAAAG	ENSP00000514472.1:n.*2813-83_*2813-80deli...
ENST00000699605.1:c.2563-83_2563-80delinsAAAG	ENSP00000514473.1:n.2563-83_2563-80delins...
ENST00000687278.1:c.580-83_580-80delinsAAAG	ENSP00000509593.1:n.580-83_580-80delinsAA...
ENST00000003084.11:c.2989-83_2989-80delinsAAAG MANE Select	ENSP00000003084.6:n.2989-83_2989-80delins...
ENST00000647720.1:c.639-83_639-80delinsAAAG
ENST00000648260.1:c.1771-83_1771-80delinsAAAG	ENSP00000497957.1:n.1771-83_1771-80delins...
ENST00000649406.1:c.2806-83_2806-80delinsAAAG	ENSP00000497965.1:n.2806-83_2806-80delins...
ENST00000649781.1:c.2806-83_2806-80delinsAAAG	ENSP00000497203.1:n.2806-83_2806-80delins...
ENST00000003084.10:c.2989-83_2989-80delinsAAAG	ENSP00000003084.6:n.2989-83_2989-80delins...
ENST00000426809.5:c.2899-83_2899-80delinsAAAG	ENSP00000389119.1:n.2899-83_2899-80delins...
NM_000492.3:c.2989-83_2989-80delinsAAAG , LRG_663t1:c.2989-83_2989-80delinsAAAG	NP_000483.3:n.2989-83_2989-80delinsAAAG
XM_011515751.1:c.3079-83_3079-80delinsAAAG	XP_011514053.1:n.3079-83_3079-80delinsAAA...
XM_011515752.1:c.3079-83_3079-80delinsAAAG	XP_011514054.1:n.3079-83_3079-80delinsAAA...
XM_011515753.1:c.2746-83_2746-80delinsAAAG	XP_011514055.1:n.2746-83_2746-80delinsAAA...
XM_011515754.1:c.2746-83_2746-80delinsAAAG	XP_011514056.1:n.2746-83_2746-80delinsAAA...
NM_000492.4:c.2989-83_2989-80delinsAAAG MANE Select	NP_000483.3:n.2989-83_2989-80delinsAAAG