Canonical Allele Identifier: CA1737408480

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668134_117668136delinsAAG , CM000669.2:g.117668134_117668136delinsAAG	GRCh38
NC_000007.13:g.117308188_117308190delinsAAG , CM000669.1:g.117308188_117308190delinsAAG	GRCh37
NC_000007.12:g.117095424_117095426delinsAAG	NCBI36
NG_016465.4:g.207351_207353delinsAAG , LRG_663:g.207351_207353delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1678_*1680delinsAAG	ENSP00000497673.2:n.*1678_*1680delinsAAG
ENST00000647978.2:c.*5183_*5185delinsAAG	ENSP00000497658.1:n.*5183_*5185delinsAAG
ENST00000649781.2:c.*1026_*1028delinsAAG	ENSP00000497203.1:n.*1026_*1028delinsAAG
ENST00000685018.2:c.*1682_*1684delinsAAG	ENSP00000510194.2:n.*1682_*1684delinsAAG
ENST00000687278.2:c.*1052-345_*1052-343delinsAAG	ENSP00000509593.2:n.*1052-345_*1052-343delinsAAG
ENST00000699585.1:c.*1938_*1940delinsAAG	ENSP00000514456.1:n.*1938_*1940delinsAAG
ENST00000699598.1:c.*455-345_*455-343delinsAAG	ENSP00000514467.1:n.*455-345_*455-343delinsAAG
ENST00000699599.1:c.*962-345_*962-343delinsAAG	ENSP00000514468.1:n.*962-345_*962-343delinsAAG
ENST00000699600.1:c.*1060-345_*1060-343delinsAAG	ENSP00000514469.1:n.*1060-345_*1060-343delinsAAG
ENST00000699601.1:c.*3844_*3846delinsAAG	ENSP00000514470.1:n.*3844_*3846delinsAAG
ENST00000699602.1:c.*1026_*1028delinsAAG	ENSP00000514471.1:n.*1026_*1028delinsAAG
ENST00000699604.1:c.*5293_*5295delinsAAG	ENSP00000514472.1:n.*5293_*5295delinsAAG
ENST00000699605.1:c.*1026_*1028delinsAAG	ENSP00000514473.1:n.*1026_*1028delinsAAG
ENST00000699606.1:n.4980_4982delinsAAG
ENST00000685018.1:c.2333_2335delinsAAG	ENSP00000510194.1:n.2333_2335delinsAAG
ENST00000687278.1:c.2186-345_2186-343delinsAAG	ENSP00000509593.1:n.2186-345_2186-343delinsAAG
ENST00000689011.1:c.2311_2313delinsAAG
ENST00000003084.11:c.*1026_*1028delinsAAG MANE Select	ENSP00000003084.6:n.*1026_*1028delinsAAG
ENST00000647720.1:c.2919_2921delinsAAG
ENST00000003084.10:c.*1026_*1028delinsAAG	ENSP00000003084.6:n.*1026_*1028delinsAAG
ENST00000600166.1:c.368+2570_368+2572delinsAAG
NM_000492.3:c.*1026_*1028delinsAAG , LRG_663t1:c.*1026_*1028delinsAAG	NP_000483.3:n.*1026_*1028delinsAAG
XM_011515751.1:c.*1026_*1028delinsAAG	XP_011514053.1:n.*1026_*1028delinsAAG
XM_011515753.1:c.*1026_*1028delinsAAG	XP_011514055.1:n.*1026_*1028delinsAAG
XM_011515754.1:c.*1026_*1028delinsAAG	XP_011514056.1:n.*1026_*1028delinsAAG
NM_000492.4:c.*1026_*1028delinsAAG MANE Select	NP_000483.3:n.*1026_*1028delinsAAG