Canonical Allele Identifier: CA2695208516

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592479del , CM000669.2:g.117592479del	GRCh38
NC_000007.13:g.117232533del , CM000669.1:g.117232533del	GRCh37
NC_000007.12:g.117019769del	NCBI36
NG_016465.4:g.131696del , LRG_663:g.131696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2312del	ENSP00000497673.2:p.Asn771ThrfsTer2
ENST00000647978.2:c.*2026del	ENSP00000497658.1:n.*2026del
ENST00000649781.2:c.2129del	ENSP00000497203.1:p.Asn710ThrfsTer2
ENST00000685018.2:c.2312del	ENSP00000510194.2:p.Asn771ThrfsTer2
ENST00000687278.2:c.2312del	ENSP00000509593.2:p.Asn771ThrfsTer2
ENST00000699585.1:c.2312del	ENSP00000514456.1:p.Asn771ThrfsTer2
ENST00000699598.1:c.2312del	ENSP00000514467.1:p.Asn771ThrfsTer2
ENST00000699599.1:c.2312del	ENSP00000514468.1:p.Asn771ThrfsTer2
ENST00000699600.1:c.2312del	ENSP00000514469.1:p.Asn771ThrfsTer2
ENST00000699601.1:c.*612del	ENSP00000514470.1:n.*612del
ENST00000699602.1:c.2312del	ENSP00000514471.1:p.Asn771ThrfsTer2
ENST00000699604.1:c.*2136del	ENSP00000514472.1:n.*2136del
ENST00000699605.1:c.1886del	ENSP00000514473.1:p.Asn629ThrfsTer2
ENST00000003084.11:c.2312del MANE Select	ENSP00000003084.6:p.Asn771ThrfsTer2
ENST00000647978.1:c.*2026del	ENSP00000497658.1:n.*2026del
ENST00000648260.1:c.1402-10347del	ENSP00000497957.1:n.1402-10347del
ENST00000649406.1:c.2129del	ENSP00000497965.1:p.Asn710ThrfsTer2
ENST00000649781.1:c.2129del	ENSP00000497203.1:p.Asn710ThrfsTer2
ENST00000003084.10:c.2312del	ENSP00000003084.6:p.Asn771ThrfsTer2
ENST00000426809.5:c.2222del	ENSP00000389119.1:p.Asn741ThrfsTer2
NM_000492.3:c.2312del , LRG_663t1:c.2312del	NP_000483.3:p.Asn771ThrfsTer2
XM_011515751.1:c.2402del	XP_011514053.1:p.Asn801ThrfsTer2
XM_011515752.1:c.2402del	XP_011514054.1:p.Asn801ThrfsTer2
XM_011515753.1:c.2069del	XP_011514055.1:p.Asn690ThrfsTer2
XM_011515754.1:c.2069del	XP_011514056.1:p.Asn690ThrfsTer2
NM_000492.4:c.2312del MANE Select	NP_000483.3:p.Asn771ThrfsTer2