Canonical Allele Identifier: CA1737384852
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610566_117610567delinsAC , CM000669.2:g.117610566_117610567delinsAC GRCh38
NC_000007.13:g.117250620_117250621delinsAC , CM000669.1:g.117250620_117250621delinsAC GRCh37
NC_000007.12:g.117037856_117037857delinsAC NCBI36
NG_016465.4:g.149783_149784delinsAC , LRG_663:g.149783_149784delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3036_3037delinsAC ENSP00000497673.2:p.Gln1012=
ENST00000647978.2:c.*2750_*2751delinsAC ENSP00000497658.1:n.*2750_*2751delinsAC
ENST00000649781.2:c.2853_2854delinsAC ENSP00000497203.1:p.Gln951=
ENST00000685018.2:c.3036_3037delinsAC ENSP00000510194.2:p.Gln1012=
ENST00000687278.2:c.3036_3037delinsAC ENSP00000509593.2:p.Gln1012=
ENST00000699585.1:c.3036_3037delinsAC ENSP00000514456.1:p.Gln1012=
ENST00000699598.1:c.3036_3037delinsAC ENSP00000514467.1:p.Gln1012=
ENST00000699599.1:c.3036_3037delinsAC ENSP00000514468.1:p.Gln1012=
ENST00000699600.1:c.3036_3037delinsAC ENSP00000514469.1:p.Gln1012=
ENST00000699601.1:c.*1336_*1337delinsAC ENSP00000514470.1:n.*1336_*1337delinsAC
ENST00000699602.1:c.3036_3037delinsAC ENSP00000514471.1:p.Gln1012=
ENST00000699604.1:c.*2860_*2861delinsAC ENSP00000514472.1:n.*2860_*2861delinsAC
ENST00000699605.1:c.2610_2611delinsAC ENSP00000514473.1:p.Gln870=
ENST00000687278.1:c.627_628delinsAC ENSP00000509593.1:p.Gln209=
ENST00000003084.11:c.3036_3037delinsAC MANE Select ENSP00000003084.6:p.Gln1012=
ENST00000647720.1:c.686_687delinsAC
ENST00000648260.1:c.1818_1819delinsAC ENSP00000497957.1:p.Gln606=
ENST00000649406.1:c.2853_2854delinsAC ENSP00000497965.1:p.Gln951=
ENST00000649781.1:c.2853_2854delinsAC ENSP00000497203.1:p.Gln951=
ENST00000003084.10:c.3036_3037delinsAC ENSP00000003084.6:p.Gln1012=
ENST00000426809.5:c.2946_2947delinsAC ENSP00000389119.1:p.Gln982=
NM_000492.3:c.3036_3037delinsAC , LRG_663t1:c.3036_3037delinsAC NP_000483.3:p.Gln1012=
XM_011515751.1:c.3126_3127delinsAC XP_011514053.1:p.Gln1042=
XM_011515752.1:c.3126_3127delinsAC XP_011514054.1:p.Gln1042=
XM_011515753.1:c.2793_2794delinsAC XP_011514055.1:p.Gln931=
XM_011515754.1:c.2793_2794delinsAC XP_011514056.1:p.Gln931=
NM_000492.4:c.3036_3037delinsAC MANE Select NP_000483.3:p.Gln1012=