Canonical Allele Identifier: CA2579000416

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664814del , CM000669.2:g.117664814del	GRCh38
NC_000007.13:g.117304868del , CM000669.1:g.117304868del	GRCh37
NC_000007.12:g.117092104del	NCBI36
NG_016465.4:g.204031del , LRG_663:g.204031del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*299del	ENSP00000497673.2:n.*299del
ENST00000647978.2:c.*3804del	ENSP00000497658.1:n.*3804del
ENST00000649781.2:c.3907del	ENSP00000497203.1:p.Ala1303ArgfsTer16
ENST00000685018.2:c.*303del	ENSP00000510194.2:n.*303del
ENST00000687278.2:c.*743del	ENSP00000509593.2:n.*743del
ENST00000699585.1:c.*299del	ENSP00000514456.1:n.*299del
ENST00000699598.1:c.4090del	ENSP00000514467.1:p.Ala1364ArgfsTer16
ENST00000699599.1:c.*303del	ENSP00000514468.1:n.*303del
ENST00000699600.1:c.*751del	ENSP00000514469.1:n.*751del
ENST00000699601.1:c.*2465del	ENSP00000514470.1:n.*2465del
ENST00000699602.1:c.4084del	ENSP00000514471.1:p.Ala1362ArgfsTer16
ENST00000699604.1:c.*3914del	ENSP00000514472.1:n.*3914del
ENST00000699605.1:c.3664del	ENSP00000514473.1:p.Ala1222ArgfsTer16
ENST00000699606.1:n.2258del
ENST00000685018.1:c.954del	ENSP00000510194.1:n.954del
ENST00000687278.1:c.1877del	ENSP00000509593.1:n.1877del
ENST00000689011.1:c.672del
ENST00000003084.11:c.4090del MANE Select	ENSP00000003084.6:p.Ala1364ArgfsTer16
ENST00000647720.1:c.1540del
ENST00000649781.1:c.3907del	ENSP00000497203.1:p.Ala1303ArgfsTer16
ENST00000003084.10:c.4090del	ENSP00000003084.6:p.Ala1364ArgfsTer16
ENST00000426809.5:c.4000del	ENSP00000389119.1:p.Ala1334ArgfsTer16
ENST00000600166.1:c.216del
NM_000492.3:c.4090del , LRG_663t1:c.4090del	NP_000483.3:p.Ala1364ArgfsTer16
XM_011515751.1:c.4180del	XP_011514053.1:p.Ala1394ArgfsTer16
XM_011515752.1:c.4180del	XP_011514054.1:p.Ala1394ArgfsTer16
XM_011515753.1:c.3847del	XP_011514055.1:p.Ala1283ArgfsTer16
XM_011515754.1:c.3847del	XP_011514056.1:p.Ala1283ArgfsTer16
NM_000492.4:c.4090del MANE Select	NP_000483.3:p.Ala1364ArgfsTer16