Canonical Allele Identifier: CA1737395021
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592381_117592382delinsAG , CM000669.2:g.117592381_117592382delinsAG GRCh38
NC_000007.13:g.117232435_117232436delinsAG , CM000669.1:g.117232435_117232436delinsAG GRCh37
NC_000007.12:g.117019671_117019672delinsAG NCBI36
NG_016465.4:g.131598_131599delinsAG , LRG_663:g.131598_131599delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2214_2215delinsAG ENSP00000497673.2:p.Leu738=
ENST00000647978.2:c.*1928_*1929delinsAG ENSP00000497658.1:n.*1928_*1929delinsAG
ENST00000649781.2:c.2031_2032delinsAG ENSP00000497203.1:p.Leu677=
ENST00000685018.2:c.2214_2215delinsAG ENSP00000510194.2:p.Leu738=
ENST00000687278.2:c.2214_2215delinsAG ENSP00000509593.2:p.Leu738=
ENST00000699585.1:c.2214_2215delinsAG ENSP00000514456.1:p.Leu738=
ENST00000699598.1:c.2214_2215delinsAG ENSP00000514467.1:p.Leu738=
ENST00000699599.1:c.2214_2215delinsAG ENSP00000514468.1:p.Leu738=
ENST00000699600.1:c.2214_2215delinsAG ENSP00000514469.1:p.Leu738=
ENST00000699601.1:c.*514_*515delinsAG ENSP00000514470.1:n.*514_*515delinsAG
ENST00000699602.1:c.2214_2215delinsAG ENSP00000514471.1:p.Leu738=
ENST00000699604.1:c.*2038_*2039delinsAG ENSP00000514472.1:n.*2038_*2039delinsAG
ENST00000699605.1:c.1788_1789delinsAG ENSP00000514473.1:p.Leu596=
ENST00000003084.11:c.2214_2215delinsAG MANE Select ENSP00000003084.6:p.Leu738=
ENST00000647978.1:c.*1928_*1929delinsAG ENSP00000497658.1:n.*1928_*1929delinsAG
ENST00000648260.1:c.1402-10445_1402-10444delinsAG ENSP00000497957.1:n.1402-10445_1402-10444...
ENST00000649406.1:c.2031_2032delinsAG ENSP00000497965.1:p.Leu677=
ENST00000649781.1:c.2031_2032delinsAG ENSP00000497203.1:p.Leu677=
ENST00000003084.10:c.2214_2215delinsAG ENSP00000003084.6:p.Leu738=
ENST00000426809.5:c.2124_2125delinsAG ENSP00000389119.1:p.Leu708=
NM_000492.3:c.2214_2215delinsAG , LRG_663t1:c.2214_2215delinsAG NP_000483.3:p.Leu738=
XM_011515751.1:c.2304_2305delinsAG XP_011514053.1:p.Leu768=
XM_011515752.1:c.2304_2305delinsAG XP_011514054.1:p.Leu768=
XM_011515753.1:c.1971_1972delinsAG XP_011514055.1:p.Leu657=
XM_011515754.1:c.1971_1972delinsAG XP_011514056.1:p.Leu657=
NM_000492.4:c.2214_2215delinsAG MANE Select NP_000483.3:p.Leu738=