Canonical Allele Identifier: CA2684619356

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592143-ATTCAATCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592144_117592152del , CM000669.2:g.117592144_117592152del	GRCh38
NC_000007.13:g.117232198_117232206del , CM000669.1:g.117232198_117232206del	GRCh37
NC_000007.12:g.117019434_117019442del	NCBI36
NG_016465.4:g.131361_131369del , LRG_663:g.131361_131369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1977_1985del	ENSP00000497673.2:p.Asn659_Leu662delinsLy...
ENST00000647978.2:c.*1691_*1699del	ENSP00000497658.1:n.*1691_*1699del
ENST00000649781.2:c.1794_1802del	ENSP00000497203.1:p.Asn598_Leu601delinsLy...
ENST00000685018.2:c.1977_1985del	ENSP00000510194.2:p.Asn659_Leu662delinsLy...
ENST00000687278.2:c.1977_1985del	ENSP00000509593.2:p.Asn659_Leu662delinsLy...
ENST00000699585.1:c.1977_1985del	ENSP00000514456.1:p.Asn659_Leu662delinsLy...
ENST00000699598.1:c.1977_1985del	ENSP00000514467.1:p.Asn659_Leu662delinsLy...
ENST00000699599.1:c.1977_1985del	ENSP00000514468.1:p.Asn659_Leu662delinsLy...
ENST00000699600.1:c.1977_1985del	ENSP00000514469.1:p.Asn659_Leu662delinsLy...
ENST00000699601.1:c.*277_*285del	ENSP00000514470.1:n.*277_*285del
ENST00000699602.1:c.1977_1985del	ENSP00000514471.1:p.Asn659_Leu662delinsLy...
ENST00000699604.1:c.*1801_*1809del	ENSP00000514472.1:n.*1801_*1809del
ENST00000699605.1:c.1551_1559del	ENSP00000514473.1:p.Asn517_Leu520delinsLy...
ENST00000003084.11:c.1977_1985del MANE Select	ENSP00000003084.6:p.Asn659_Leu662delinsLy...
ENST00000647978.1:c.*1691_*1699del	ENSP00000497658.1:n.*1691_*1699del
ENST00000648260.1:c.1402-10682_1402-10674del	ENSP00000497957.1:n.1402-10682_1402-10674...
ENST00000649406.1:c.1794_1802del	ENSP00000497965.1:p.Asn598_Leu601delinsLy...
ENST00000649781.1:c.1794_1802del	ENSP00000497203.1:p.Asn598_Leu601delinsLy...
ENST00000003084.10:c.1977_1985del	ENSP00000003084.6:p.Asn659_Leu662delinsLy...
ENST00000426809.5:c.1887_1895del	ENSP00000389119.1:p.Asn629_Leu632delinsLy...
NM_000492.3:c.1977_1985del , LRG_663t1:c.1977_1985del	NP_000483.3:p.Asn659_Leu662delinsLys
XM_011515751.1:c.2067_2075del	XP_011514053.1:p.Asn689_Leu692delinsLys
XM_011515752.1:c.2067_2075del	XP_011514054.1:p.Asn689_Leu692delinsLys
XM_011515753.1:c.1734_1742del	XP_011514055.1:p.Asn578_Leu581delinsLys
XM_011515754.1:c.1734_1742del	XP_011514056.1:p.Asn578_Leu581delinsLys
NM_000492.4:c.1977_1985del MANE Select	NP_000483.3:p.Asn659_Leu662delinsLys