Canonical Allele Identifier: CA1737395791

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592655_117592659delinsAAGGT , CM000669.2:g.117592655_117592659delinsAAGGT	GRCh38
NC_000007.13:g.117232709_117232713delinsAAGGT , CM000669.1:g.117232709_117232713delinsAAGGT	GRCh37
NC_000007.12:g.117019945_117019949delinsAAGGT	NCBI36
NG_016465.4:g.131872_131876delinsAAGGT , LRG_663:g.131872_131876delinsAAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2488_2490+2delinsAAGGT
ENST00000647978.2:c.*2202_*2204+2delinsAAGGT
ENST00000649781.2:c.2305_2307+2delinsAAGGT
ENST00000685018.2:c.2488_2490+2delinsAAGGT
ENST00000687278.2:c.2488_2490+2delinsAAGGT
ENST00000699585.1:c.2488_2490+2delinsAAGGT
ENST00000699598.1:c.2488_2490+2delinsAAGGT
ENST00000699599.1:c.2488_2490+2delinsAAGGT
ENST00000699600.1:c.2488_2490+2delinsAAGGT
ENST00000699601.1:c.*788_*790+2delinsAAGGT
ENST00000699602.1:c.2488_2490+2delinsAAGGT
ENST00000699604.1:c.*2312_*2314+2delinsAAGGT
ENST00000699605.1:c.2062_2064+2delinsAAGGT
ENST00000687278.1:c.79_81+2delinsAAGGT
ENST00000003084.11:c.2488_2490+2delinsAAGGT
ENST00000647720.1:c.138_140+2delinsAAGGT
ENST00000647978.1:c.*2202_*2204+2delinsAAGGT
ENST00000648260.1:c.1402-10171_1402-10167delinsAAGGT	ENSP00000497957.1:n.1402-10171_1402-10167delinsAAGGT
ENST00000649406.1:c.2305_2307+2delinsAAGGT
ENST00000649781.1:c.2305_2307+2delinsAAGGT
ENST00000003084.10:c.2488_2490+2delinsAAGGT
ENST00000426809.5:c.2398_2400+2delinsAAGGT
NM_000492.3:c.2488_2490+2delinsAAGGT , LRG_663t1:c.2488_2490+2delinsAAGGT
XM_011515751.1:c.2578_2580+2delinsAAGGT
XM_011515752.1:c.2578_2580+2delinsAAGGT
XM_011515753.1:c.2245_2247+2delinsAAGGT
XM_011515754.1:c.2245_2247+2delinsAAGGT
NM_000492.4:c.2488_2490+2delinsAAGGT