Canonical Allele Identifier: CA1737404805
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642570_117642575delinsAAAGCC , CM000669.2:g.117642570_117642575delinsAAAGCC GRCh38
NC_000007.13:g.117282624_117282629delinsAAAGCC , CM000669.1:g.117282624_117282629delinsAAAGCC GRCh37
NC_000007.12:g.117069860_117069865delinsAAAGCC NCBI36
NG_016465.4:g.181787_181792delinsAAAGCC , LRG_663:g.181787_181792delinsAAAGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*59_*64delinsAAAGCC ENSP00000497673.2:n.*59_*64delinsAAAGCC
ENST00000647978.2:c.*3564_*3569delinsAAAGCC ENSP00000497658.1:n.*3564_*3569delinsAAAG...
ENST00000649781.2:c.3667_3672delinsAAAGCC ENSP00000497203.1:p.Lys1223=
ENST00000685018.2:c.3850_3855delinsAAAGCC ENSP00000510194.2:p.Lys1284=
ENST00000687278.2:c.*503_*508delinsAAAGCC ENSP00000509593.2:n.*503_*508delinsAAAGCC...
ENST00000699585.1:c.*59_*64delinsAAAGCC ENSP00000514456.1:n.*59_*64delinsAAAGCC
ENST00000699598.1:c.3850_3855delinsAAAGCC ENSP00000514467.1:p.Lys1284=
ENST00000699599.1:c.3850_3855delinsAAAGCC ENSP00000514468.1:p.Lys1284=
ENST00000699600.1:c.*511_*516delinsAAAGCC ENSP00000514469.1:n.*511_*516delinsAAAGCC...
ENST00000699601.1:c.*2225_*2230delinsAAAGCC ENSP00000514470.1:n.*2225_*2230delinsAAAG...
ENST00000699602.1:c.3844_3849delinsAAAGCC ENSP00000514471.1:p.Lys1282=
ENST00000699604.1:c.*3674_*3679delinsAAAGCC ENSP00000514472.1:n.*3674_*3679delinsAAAG...
ENST00000699605.1:c.3424_3429delinsAAAGCC ENSP00000514473.1:p.Lys1142=
ENST00000685018.1:c.598_603delinsAAAGCC ENSP00000510194.1:p.Lys200=
ENST00000687278.1:c.1637_1642delinsAAAGCC ENSP00000509593.1:n.1637_1642delinsAAAGCC...
ENST00000689011.1:c.432_437delinsAAAGCC
ENST00000003084.11:c.3850_3855delinsAAAGCC MANE Select ENSP00000003084.6:p.Lys1284=
ENST00000647720.1:c.1300_1305delinsAAAGCC
ENST00000649781.1:c.3667_3672delinsAAAGCC ENSP00000497203.1:p.Lys1223=
ENST00000003084.10:c.3850_3855delinsAAAGCC ENSP00000003084.6:p.Lys1284=
ENST00000426809.5:c.3760_3765delinsAAAGCC ENSP00000389119.1:p.Lys1254=
NM_000492.3:c.3850_3855delinsAAAGCC , LRG_663t1:c.3850_3855delinsAAAGCC NP_000483.3:p.Lys1284=
XM_011515751.1:c.3940_3945delinsAAAGCC XP_011514053.1:p.Lys1314=
XM_011515752.1:c.3940_3945delinsAAAGCC XP_011514054.1:p.Lys1314=
XM_011515753.1:c.3607_3612delinsAAAGCC XP_011514055.1:p.Lys1203=
XM_011515754.1:c.3607_3612delinsAAAGCC XP_011514056.1:p.Lys1203=
NM_000492.4:c.3850_3855delinsAAAGCC MANE Select NP_000483.3:p.Lys1284=