Canonical Allele Identifier: CA1737390602
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587827_117587828delinsTA , CM000669.2:g.117587827_117587828delinsTA GRCh38
NC_000007.13:g.117227881_117227882delinsTA , CM000669.1:g.117227881_117227882delinsTA GRCh37
NC_000007.12:g.117015117_117015118delinsTA NCBI36
NG_016465.4:g.127044_127045delinsTA , LRG_663:g.127044_127045delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1673_1674delinsTA ENSP00000497673.2:p.Leu558=
ENST00000647978.2:c.*1387_*1388delinsTA ENSP00000497658.1:n.*1387_*1388delinsTA
ENST00000649781.2:c.1490_1491delinsTA ENSP00000497203.1:p.Leu497=
ENST00000685018.2:c.1673_1674delinsTA ENSP00000510194.2:p.Leu558=
ENST00000687278.2:c.1673_1674delinsTA ENSP00000509593.2:p.Leu558=
ENST00000699585.1:c.1673_1674delinsTA ENSP00000514456.1:p.Leu558=
ENST00000699598.1:c.1673_1674delinsTA ENSP00000514467.1:p.Leu558=
ENST00000699599.1:c.1673_1674delinsTA ENSP00000514468.1:p.Leu558=
ENST00000699600.1:c.1673_1674delinsTA ENSP00000514469.1:p.Leu558=
ENST00000699601.1:c.1673_1674delinsTA ENSP00000514470.1:p.Leu558=
ENST00000699602.1:c.1673_1674delinsTA ENSP00000514471.1:p.Leu558=
ENST00000699604.1:c.*1497_*1498delinsTA ENSP00000514472.1:n.*1497_*1498delinsTA
ENST00000699605.1:c.1247_1248delinsTA ENSP00000514473.1:p.Leu416=
ENST00000003084.11:c.1673_1674delinsTA MANE Select ENSP00000003084.6:p.Leu558=
ENST00000647978.1:c.*1387_*1388delinsTA ENSP00000497658.1:n.*1387_*1388delinsTA
ENST00000648260.1:c.1402-14999_1402-14998delinsTA ENSP00000497957.1:n.1402-14999_1402-14998delinsTA
ENST00000649406.1:c.1490_1491delinsTA ENSP00000497965.1:p.Leu497=
ENST00000649781.1:c.1490_1491delinsTA ENSP00000497203.1:p.Leu497=
ENST00000003084.10:c.1673_1674delinsTA ENSP00000003084.6:p.Leu558=
ENST00000426809.5:c.1583_1584delinsTA ENSP00000389119.1:p.Leu528=
NM_000492.3:c.1673_1674delinsTA , LRG_663t1:c.1673_1674delinsTA NP_000483.3:p.Leu558=
XM_011515751.1:c.1763_1764delinsTA XP_011514053.1:p.Leu588=
XM_011515752.1:c.1763_1764delinsTA XP_011514054.1:p.Leu588=
XM_011515753.1:c.1430_1431delinsTA XP_011514055.1:p.Leu477=
XM_011515754.1:c.1430_1431delinsTA XP_011514056.1:p.Leu477=
NM_000492.4:c.1673_1674delinsTA MANE Select NP_000483.3:p.Leu558=