Canonical Allele Identifier: CA1737385695

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610847_117610848delinsGA , CM000669.2:g.117610847_117610848delinsGA	GRCh38
NC_000007.13:g.117250901_117250902delinsGA , CM000669.1:g.117250901_117250902delinsGA	GRCh37
NC_000007.12:g.117038137_117038138delinsGA	NCBI36
NG_016465.4:g.150064_150065delinsGA , LRG_663:g.150064_150065delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3139+178_3139+179delinsGA	ENSP00000497673.2:n.3139+178_3139+179delinsGA
ENST00000647978.2:c.*2853+178_*2853+179delinsGA	ENSP00000497658.1:n.*2853+178_*2853+179delinsGA
ENST00000649781.2:c.2956+178_2956+179delinsGA	ENSP00000497203.1:n.2956+178_2956+179delinsGA
ENST00000685018.2:c.3139+178_3139+179delinsGA	ENSP00000510194.2:n.3139+178_3139+179delinsGA
ENST00000687278.2:c.3139+178_3139+179delinsGA	ENSP00000509593.2:n.3139+178_3139+179delinsGA
ENST00000699585.1:c.3139+178_3139+179delinsGA	ENSP00000514456.1:n.3139+178_3139+179delinsGA
ENST00000699598.1:c.3139+178_3139+179delinsGA	ENSP00000514467.1:n.3139+178_3139+179delinsGA
ENST00000699599.1:c.3139+178_3139+179delinsGA	ENSP00000514468.1:n.3139+178_3139+179delinsGA
ENST00000699600.1:c.3139+178_3139+179delinsGA	ENSP00000514469.1:n.3139+178_3139+179delinsGA
ENST00000699601.1:c.*1439+178_*1439+179delinsGA	ENSP00000514470.1:n.*1439+178_*1439+179delinsGA
ENST00000699602.1:c.3139+178_3139+179delinsGA	ENSP00000514471.1:n.3139+178_3139+179delinsGA
ENST00000699604.1:c.*2963+178_*2963+179delinsGA	ENSP00000514472.1:n.*2963+178_*2963+179delinsGA
ENST00000699605.1:c.2713+178_2713+179delinsGA	ENSP00000514473.1:n.2713+178_2713+179delinsGA
ENST00000687278.1:c.730+178_730+179delinsGA	ENSP00000509593.1:n.730+178_730+179delinsGA
ENST00000003084.11:c.3139+178_3139+179delinsGA MANE Select	ENSP00000003084.6:n.3139+178_3139+179delinsGA
ENST00000647720.1:c.789+178_789+179delinsGA
ENST00000648260.1:c.1921+178_1921+179delinsGA	ENSP00000497957.1:n.1921+178_1921+179delinsGA
ENST00000649406.1:c.2956+178_2956+179delinsGA	ENSP00000497965.1:n.2956+178_2956+179delinsGA
ENST00000649781.1:c.2956+178_2956+179delinsGA	ENSP00000497203.1:n.2956+178_2956+179delinsGA
ENST00000003084.10:c.3139+178_3139+179delinsGA	ENSP00000003084.6:n.3139+178_3139+179delinsGA
ENST00000426809.5:c.3049+178_3049+179delinsGA	ENSP00000389119.1:n.3049+178_3049+179delinsGA
NM_000492.3:c.3139+178_3139+179delinsGA , LRG_663t1:c.3139+178_3139+179delinsGA	NP_000483.3:n.3139+178_3139+179delinsGA
XM_011515751.1:c.3229+178_3229+179delinsGA	XP_011514053.1:n.3229+178_3229+179delinsGA
XM_011515752.1:c.3229+178_3229+179delinsGA	XP_011514054.1:n.3229+178_3229+179delinsGA
XM_011515753.1:c.2896+178_2896+179delinsGA	XP_011514055.1:n.2896+178_2896+179delinsGA
XM_011515754.1:c.2896+178_2896+179delinsGA	XP_011514056.1:n.2896+178_2896+179delinsGA
NM_000492.4:c.3139+178_3139+179delinsGA MANE Select	NP_000483.3:n.3139+178_3139+179delinsGA