Canonical Allele Identifier: CA2695208435

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611671_117611675del , CM000669.2:g.117611671_117611675del	GRCh38
NC_000007.13:g.117251725_117251729del , CM000669.1:g.117251725_117251729del	GRCh37
NC_000007.12:g.117038961_117038965del	NCBI36
NG_016465.4:g.150888_150892del , LRG_663:g.150888_150892del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3230_3234del	ENSP00000497673.2:p.Leu1077ProfsTer?
ENST00000647978.2:c.*2944_*2948del	ENSP00000497658.1:n.*2944_*2948del
ENST00000649781.2:c.3047_3051del	ENSP00000497203.1:p.Leu1016ProfsTer?
ENST00000685018.2:c.3230_3234del	ENSP00000510194.2:p.Leu1077ProfsTer?
ENST00000687278.2:c.3230_3234del	ENSP00000509593.2:p.Leu1077ProfsTer?
ENST00000699585.1:c.3230_3234del	ENSP00000514456.1:p.Leu1077ProfsTer?
ENST00000699598.1:c.3230_3234del	ENSP00000514467.1:p.Leu1077ProfsTer?
ENST00000699599.1:c.3230_3234del	ENSP00000514468.1:p.Leu1077ProfsTer?
ENST00000699600.1:c.3230_3234del	ENSP00000514469.1:p.Leu1077ProfsTer?
ENST00000699601.1:c.*1530_*1534del	ENSP00000514470.1:n.*1530_*1534del
ENST00000699602.1:c.3230_3234del	ENSP00000514471.1:p.Leu1077ProfsTer?
ENST00000699604.1:c.*3054_*3058del	ENSP00000514472.1:n.*3054_*3058del
ENST00000699605.1:c.2804_2808del	ENSP00000514473.1:p.Leu935ProfsTer?
ENST00000687278.1:c.821_825del	ENSP00000509593.1:p.Leu274ProfsTer?
ENST00000003084.11:c.3230_3234del MANE Select	ENSP00000003084.6:p.Leu1077ProfsTer?
ENST00000647720.1:c.880_884del
ENST00000648260.1:c.2012_2016del	ENSP00000497957.1:p.Leu671ProfsTer?
ENST00000649406.1:c.3047_3051del	ENSP00000497965.1:p.Leu1016ProfsTer?
ENST00000649781.1:c.3047_3051del	ENSP00000497203.1:p.Leu1016ProfsTer?
ENST00000003084.10:c.3230_3234del	ENSP00000003084.6:p.Leu1077ProfsTer?
ENST00000426809.5:c.3140_3144del	ENSP00000389119.1:p.Leu1047ProfsTer?
ENST00000468795.1:c.55_59del
NM_000492.3:c.3230_3234del , LRG_663t1:c.3230_3234del	NP_000483.3:p.Leu1077ProfsTer?
XM_011515751.1:c.3320_3324del	XP_011514053.1:p.Leu1107ProfsTer?
XM_011515752.1:c.3320_3324del	XP_011514054.1:p.Leu1107ProfsTer?
XM_011515753.1:c.2987_2991del	XP_011514055.1:p.Leu996ProfsTer?
XM_011515754.1:c.2987_2991del	XP_011514056.1:p.Leu996ProfsTer?
NM_000492.4:c.3230_3234del MANE Select	NP_000483.3:p.Leu1077ProfsTer?