Canonical Allele Identifier: CA1737384650
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610521_117610522delinsGT , CM000669.2:g.117610521_117610522delinsGT GRCh38
NC_000007.13:g.117250575_117250576delinsGT , CM000669.1:g.117250575_117250576delinsGT GRCh37
NC_000007.12:g.117037811_117037812delinsGT NCBI36
NG_016465.4:g.149738_149739delinsGT , LRG_663:g.149738_149739delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2991_2992delinsGT ENSP00000497673.2:p.Leu997=
ENST00000647978.2:c.*2705_*2706delinsGT ENSP00000497658.1:n.*2705_*2706delinsGT
ENST00000649781.2:c.2808_2809delinsGT ENSP00000497203.1:p.Leu936=
ENST00000685018.2:c.2991_2992delinsGT ENSP00000510194.2:p.Leu997=
ENST00000687278.2:c.2991_2992delinsGT ENSP00000509593.2:p.Leu997=
ENST00000699585.1:c.2991_2992delinsGT ENSP00000514456.1:p.Leu997=
ENST00000699598.1:c.2991_2992delinsGT ENSP00000514467.1:p.Leu997=
ENST00000699599.1:c.2991_2992delinsGT ENSP00000514468.1:p.Leu997=
ENST00000699600.1:c.2991_2992delinsGT ENSP00000514469.1:p.Leu997=
ENST00000699601.1:c.*1291_*1292delinsGT ENSP00000514470.1:n.*1291_*1292delinsGT
ENST00000699602.1:c.2991_2992delinsGT ENSP00000514471.1:p.Leu997=
ENST00000699604.1:c.*2815_*2816delinsGT ENSP00000514472.1:n.*2815_*2816delinsGT
ENST00000699605.1:c.2565_2566delinsGT ENSP00000514473.1:p.Leu855=
ENST00000687278.1:c.582_583delinsGT ENSP00000509593.1:p.Leu194=
ENST00000003084.11:c.2991_2992delinsGT MANE Select ENSP00000003084.6:p.Leu997=
ENST00000647720.1:c.641_642delinsGT
ENST00000648260.1:c.1773_1774delinsGT ENSP00000497957.1:p.Leu591=
ENST00000649406.1:c.2808_2809delinsGT ENSP00000497965.1:p.Leu936=
ENST00000649781.1:c.2808_2809delinsGT ENSP00000497203.1:p.Leu936=
ENST00000003084.10:c.2991_2992delinsGT ENSP00000003084.6:p.Leu997=
ENST00000426809.5:c.2901_2902delinsGT ENSP00000389119.1:p.Leu967=
NM_000492.3:c.2991_2992delinsGT , LRG_663t1:c.2991_2992delinsGT NP_000483.3:p.Leu997=
XM_011515751.1:c.3081_3082delinsGT XP_011514053.1:p.Leu1027=
XM_011515752.1:c.3081_3082delinsGT XP_011514054.1:p.Leu1027=
XM_011515753.1:c.2748_2749delinsGT XP_011514055.1:p.Leu916=
XM_011515754.1:c.2748_2749delinsGT XP_011514056.1:p.Leu916=
NM_000492.4:c.2991_2992delinsGT MANE Select NP_000483.3:p.Leu997=