Canonical Allele Identifier: CA2684649157

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664698-G-GGTTGTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664698_117664699insGTTGTTCT , CM000669.2:g.117664698_117664699insGTTGTTCT	GRCh38
NC_000007.13:g.117304752_117304753insGTTGTTCT , CM000669.1:g.117304752_117304753insGTTGTTCT	GRCh37
NC_000007.12:g.117091988_117091989insGTTGTTCT	NCBI36
NG_016465.4:g.203915_203916insGTTGTTCT , LRG_663:g.203915_203916insGTTGTTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*183_*184insGTTGTTCT	ENSP00000497673.2:n.*183_*184insGTTGTTCT
ENST00000647978.2:c.*3688_*3689insGTTGTTCT	ENSP00000497658.1:n.*3688_*3689insGTTGTTCT
ENST00000649781.2:c.3791_3792insGTTGTTCT	ENSP00000497203.1:p.Ser1265LeufsTer5
ENST00000685018.2:c.*187_*188insGTTGTTCT	ENSP00000510194.2:n.*187_*188insGTTGTTCT
ENST00000687278.2:c.*627_*628insGTTGTTCT	ENSP00000509593.2:n.*627_*628insGTTGTTCT
ENST00000699585.1:c.*183_*184insGTTGTTCT	ENSP00000514456.1:n.*183_*184insGTTGTTCT
ENST00000699598.1:c.3974_3975insGTTGTTCT	ENSP00000514467.1:p.Ser1326LeufsTer5
ENST00000699599.1:c.*187_*188insGTTGTTCT	ENSP00000514468.1:n.*187_*188insGTTGTTCT
ENST00000699600.1:c.*635_*636insGTTGTTCT	ENSP00000514469.1:n.*635_*636insGTTGTTCT
ENST00000699601.1:c.*2349_*2350insGTTGTTCT	ENSP00000514470.1:n.*2349_*2350insGTTGTTCT
ENST00000699602.1:c.3968_3969insGTTGTTCT	ENSP00000514471.1:p.Ser1324LeufsTer5
ENST00000699604.1:c.*3798_*3799insGTTGTTCT	ENSP00000514472.1:n.*3798_*3799insGTTGTTCT
ENST00000699605.1:c.3548_3549insGTTGTTCT	ENSP00000514473.1:p.Ser1184LeufsTer5
ENST00000699606.1:n.2142_2143insGTTGTTCT
ENST00000685018.1:c.838_839insGTTGTTCT	ENSP00000510194.1:n.838_839insGTTGTTCT
ENST00000687278.1:c.1761_1762insGTTGTTCT	ENSP00000509593.1:n.1761_1762insGTTGTTCT
ENST00000689011.1:c.556_557insGTTGTTCT
ENST00000003084.11:c.3974_3975insGTTGTTCT MANE Select	ENSP00000003084.6:p.Ser1326LeufsTer5
ENST00000647720.1:c.1424_1425insGTTGTTCT
ENST00000649781.1:c.3791_3792insGTTGTTCT	ENSP00000497203.1:p.Ser1265LeufsTer5
ENST00000003084.10:c.3974_3975insGTTGTTCT	ENSP00000003084.6:p.Ser1326LeufsTer5
ENST00000426809.5:c.3884_3885insGTTGTTCT	ENSP00000389119.1:p.Ser1296LeufsTer5
ENST00000600166.1:c.100_101insGTTGTTCT
NM_000492.3:c.3974_3975insGTTGTTCT , LRG_663t1:c.3974_3975insGTTGTTCT	NP_000483.3:p.Ser1326LeufsTer5
XM_011515751.1:c.4064_4065insGTTGTTCT	XP_011514053.1:p.Ser1356LeufsTer5
XM_011515752.1:c.4064_4065insGTTGTTCT	XP_011514054.1:p.Ser1356LeufsTer5
XM_011515753.1:c.3731_3732insGTTGTTCT	XP_011514055.1:p.Ser1245LeufsTer5
XM_011515754.1:c.3731_3732insGTTGTTCT	XP_011514056.1:p.Ser1245LeufsTer5
NM_000492.4:c.3974_3975insGTTGTTCT MANE Select	NP_000483.3:p.Ser1326LeufsTer5