Canonical Allele Identifier: CA2695208318

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559500_117559508del , CM000669.2:g.117559500_117559508del	GRCh38
NC_000007.13:g.117199554_117199562del , CM000669.1:g.117199554_117199562del	GRCh37
NC_000007.12:g.116986790_116986798del	NCBI36
NG_016465.4:g.98717_98725del , LRG_663:g.98717_98725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1429_1437del (CFTR)	ENSP00000497673.2:p.Pro477_Glu479del
ENST00000647978.2:c.*1143_*1151del (CFTR)	ENSP00000497658.1:n.*1143_*1151del
ENST00000649781.2:c.1246_1254del (CFTR)	ENSP00000497203.1:p.Pro416_Glu418del
ENST00000685018.2:c.1429_1437del (CFTR)	ENSP00000510194.2:p.Pro477_Glu479del
ENST00000687278.2:c.1429_1437del (CFTR)	ENSP00000509593.2:p.Pro477_Glu479del
ENST00000699585.1:c.1429_1437del (CFTR)	ENSP00000514456.1:p.Pro477_Glu479del
ENST00000699596.1:c.1429_1437del (CFTR)	ENSP00000514465.1:p.Pro477_Glu479del
ENST00000699597.1:c.1424_1432del (CFTR)	ENSP00000514466.1:p.Ala475_Arg477del
ENST00000699598.1:c.1429_1437del (CFTR)	ENSP00000514467.1:p.Pro477_Glu479del
ENST00000699599.1:c.1429_1437del (CFTR)	ENSP00000514468.1:p.Pro477_Glu479del
ENST00000699600.1:c.1429_1437del (CFTR)	ENSP00000514469.1:p.Pro477_Glu479del
ENST00000699601.1:c.1429_1437del (CFTR)	ENSP00000514470.1:p.Pro477_Glu479del
ENST00000699602.1:c.1429_1437del (CFTR)	ENSP00000514471.1:p.Pro477_Glu479del
ENST00000699604.1:c.*1253_*1261del (CFTR)	ENSP00000514472.1:n.*1253_*1261del
ENST00000699605.1:c.1003_1011del (CFTR)	ENSP00000514473.1:p.Pro335_Glu337del
ENST00000003084.11:c.1429_1437del (CFTR) MANE Select	ENSP00000003084.6:p.Pro477_Glu479del
ENST00000647978.1:c.*1143_*1151del (CFTR)	ENSP00000497658.1:n.*1143_*1151del
ENST00000648260.1:c.1246_1254del (CFTR)	ENSP00000497957.1:p.Pro416_Glu418del
ENST00000649406.1:c.1246_1254del (CFTR)	ENSP00000497965.1:p.Pro416_Glu418del
ENST00000649781.1:c.1246_1254del (CFTR)	ENSP00000497203.1:p.Pro416_Glu418del
ENST00000003084.10:c.1429_1437del (CFTR)	ENSP00000003084.6:p.Pro477_Glu479del
ENST00000426809.5:c.1339_1347del (CFTR)	ENSP00000389119.1:p.Pro447_Glu449del
NM_000492.3:c.1429_1437del , LRG_663t1:c.1429_1437del (CFTR)	NP_000483.3:p.Pro477_Glu479del
XM_011515751.1:c.1519_1527del (CFTR)	XP_011514053.1:p.Pro507_Glu509del
XM_011515752.1:c.1519_1527del (CFTR)	XP_011514054.1:p.Pro507_Glu509del
XM_011515753.1:c.1186_1194del (CFTR)	XP_011514055.1:p.Pro396_Glu398del
XM_011515754.1:c.1186_1194del (CFTR)	XP_011514056.1:p.Pro396_Glu398del
NR_149084.1:n.221+1228_221+1236del (CFTR-AS1)
NM_000492.4:c.1429_1437del (CFTR) MANE Select	NP_000483.3:p.Pro477_Glu479del