Canonical Allele Identifier: CA3005119631

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117504355_117504357del , CM000669.2:g.117504355_117504357del	GRCh38
NC_000007.13:g.117144409_117144411del , CM000669.1:g.117144409_117144411del	GRCh37
NC_000007.12:g.116931645_116931647del	NCBI36
NG_016465.4:g.43572_43574del , LRG_663:g.43572_43574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.156_158del	ENSP00000497673.2:p.Leu53del
ENST00000647978.2:c.156_158del	ENSP00000497658.1:p.Leu53del
ENST00000649781.2:c.156_158del	ENSP00000497203.1:p.Leu53del
ENST00000649850.2:c.156_158del	ENSP00000514457.1:p.Leu53del
ENST00000685018.2:c.156_158del	ENSP00000510194.2:p.Leu53del
ENST00000687278.2:c.156_158del	ENSP00000509593.2:p.Leu53del
ENST00000693465.2:n.241_243del
ENST00000699585.1:c.156_158del	ENSP00000514456.1:p.Leu53del
ENST00000699596.1:c.156_158del	ENSP00000514465.1:p.Leu53del
ENST00000699597.1:c.156_158del	ENSP00000514466.1:p.Leu53del
ENST00000699598.1:c.156_158del	ENSP00000514467.1:p.Leu53del
ENST00000699599.1:c.156_158del	ENSP00000514468.1:p.Leu53del
ENST00000699600.1:c.156_158del	ENSP00000514469.1:p.Leu53del
ENST00000699601.1:c.156_158del	ENSP00000514470.1:p.Leu53del
ENST00000699602.1:c.156_158del	ENSP00000514471.1:p.Leu53del
ENST00000699604.1:c.156_158del	ENSP00000514472.1:p.Leu53del
ENST00000699605.1:c.-88_-86del	ENSP00000514473.1:n.-88_-86del
ENST00000446805.2:c.-88_-86del	ENSP00000417012.1:n.-88_-86del
ENST00000693465.1:n.226_228del
ENST00000003084.11:c.156_158del MANE Select	ENSP00000003084.6:p.Leu53del
ENST00000647639.1:n.240_242del
ENST00000647978.1:c.156_158del	ENSP00000497658.1:p.Leu53del
ENST00000648260.1:c.156_158del	ENSP00000497957.1:p.Leu53del
ENST00000649406.1:c.156_158del	ENSP00000497965.1:p.Leu53del
ENST00000649781.1:c.156_158del	ENSP00000497203.1:p.Leu53del
ENST00000649850.1:n.239_241del
ENST00000673785.1:c.-88_-86del	ENSP00000501235.1:n.-88_-86del
ENST00000003084.10:c.156_158del	ENSP00000003084.6:p.Leu53del
ENST00000426809.5:c.156_158del	ENSP00000389119.1:p.Leu53del
ENST00000446805.1:c.-88_-86del	ENSP00000417012.1:n.-88_-86del
NM_000492.3:c.156_158del , LRG_663t1:c.156_158del	NP_000483.3:p.Leu53del
XM_011515751.1:c.246_248del	XP_011514053.1:p.Leu83del
XM_011515752.1:c.246_248del	XP_011514054.1:p.Leu83del
XM_011515753.1:c.-88_-86del	XP_011514055.1:n.-88_-86del
XM_011515754.1:c.-162_-160del	XP_011514056.1:n.-162_-160del
NM_000492.4:c.156_158del MANE Select	NP_000483.3:p.Leu53del