Canonical Allele Identifier: CA2573332343

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606759del , CM000669.2:g.117606759del	GRCh38
NC_000007.13:g.117246813del , CM000669.1:g.117246813del	GRCh37
NC_000007.12:g.117034049del	NCBI36
NG_016465.4:g.145976del , LRG_663:g.145976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2988+6del	ENSP00000497673.2:n.2988+6del
ENST00000647978.2:c.*2702+6del	ENSP00000497658.1:n.*2702+6del
ENST00000649781.2:c.2805+6del	ENSP00000497203.1:n.2805+6del
ENST00000685018.2:c.2988+6del	ENSP00000510194.2:n.2988+6del
ENST00000687278.2:c.2988+6del	ENSP00000509593.2:n.2988+6del
ENST00000699585.1:c.2988+6del	ENSP00000514456.1:n.2988+6del
ENST00000699598.1:c.2988+6del	ENSP00000514467.1:n.2988+6del
ENST00000699599.1:c.2988+6del	ENSP00000514468.1:n.2988+6del
ENST00000699600.1:c.2988+6del	ENSP00000514469.1:n.2988+6del
ENST00000699601.1:c.*1288+6del	ENSP00000514470.1:n.*1288+6del
ENST00000699602.1:c.2988+6del	ENSP00000514471.1:n.2988+6del
ENST00000699604.1:c.*2812+6del	ENSP00000514472.1:n.*2812+6del
ENST00000699605.1:c.2562+6del	ENSP00000514473.1:n.2562+6del
ENST00000687278.1:c.579+6del	ENSP00000509593.1:n.579+6del
ENST00000003084.11:c.2988+6del MANE Select	ENSP00000003084.6:n.2988+6del
ENST00000647720.1:c.638+6del
ENST00000648260.1:c.1770+6del	ENSP00000497957.1:n.1770+6del
ENST00000649406.1:c.2805+6del	ENSP00000497965.1:n.2805+6del
ENST00000649781.1:c.2805+6del	ENSP00000497203.1:n.2805+6del
ENST00000003084.10:c.2988+6del	ENSP00000003084.6:n.2988+6del
ENST00000426809.5:c.2898+6del	ENSP00000389119.1:n.2898+6del
NM_000492.3:c.2988+6del , LRG_663t1:c.2988+6del	NP_000483.3:n.2988+6del
XM_011515751.1:c.3078+6del	XP_011514053.1:n.3078+6del
XM_011515752.1:c.3078+6del	XP_011514054.1:n.3078+6del
XM_011515753.1:c.2745+6del	XP_011514055.1:n.2745+6del
XM_011515754.1:c.2745+6del	XP_011514056.1:n.2745+6del
NM_000492.4:c.2988+6del MANE Select	NP_000483.3:n.2988+6del