Canonical Allele Identifier: CA2502169457
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627766_117627767insTTCTTGTAT , CM000669.2:g.117627766_117627767insTTCTTGTAT GRCh38
NC_000007.13:g.117267820_117267821insTTCTTGTAT , CM000669.1:g.117267820_117267821insTTCTTGTAT GRCh37
NC_000007.12:g.117055056_117055057insTTCTTGTAT NCBI36
NG_016465.4:g.166983_166984insTTCTTGTAT , LRG_663:g.166983_166984insTTCTTGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+196_3517+197insTTCTTGTAT ENSP00000497673.2:n.3517+196_3517+197insTTCTTGTAT
ENST00000647978.2:c.*3427_*3428insTTCTTGTAT ENSP00000497658.1:n.*3427_*3428insTTCTTGTAT
ENST00000649781.2:c.3530_3531insTTCTTGTAT ENSP00000497203.1:p.Gln1177delinsHisSerCysMet
ENST00000685018.2:c.3713_3714insTTCTTGTAT ENSP00000510194.2:p.Gln1238delinsHisSerCysMet
ENST00000687278.2:c.*366_*367insTTCTTGTAT ENSP00000509593.2:n.*366_*367insTTCTTGTAT
ENST00000699585.1:c.3517+196_3517+197insTTCTTGTAT ENSP00000514456.1:n.3517+196_3517+197insTTCTTGTAT
ENST00000699598.1:c.3713_3714insTTCTTGTAT ENSP00000514467.1:p.Gln1238delinsHisSerCysMet
ENST00000699599.1:c.3713_3714insTTCTTGTAT ENSP00000514468.1:p.Gln1238delinsHisSerCysMet
ENST00000699600.1:c.*374_*375insTTCTTGTAT ENSP00000514469.1:n.*374_*375insTTCTTGTAT
ENST00000699601.1:c.*2088_*2089insTTCTTGTAT ENSP00000514470.1:n.*2088_*2089insTTCTTGTAT
ENST00000699602.1:c.3707_3708insTTCTTGTAT ENSP00000514471.1:p.Gln1236delinsHisSerCysMet
ENST00000699604.1:c.*3537_*3538insTTCTTGTAT ENSP00000514472.1:n.*3537_*3538insTTCTTGTAT
ENST00000699605.1:c.3287_3288insTTCTTGTAT ENSP00000514473.1:p.Gln1096delinsHisSerCysMet
ENST00000685018.1:c.461_462insTTCTTGTAT ENSP00000510194.1:p.Gln154delinsHisSerCysMet
ENST00000687278.1:c.1500_1501insTTCTTGTAT ENSP00000509593.1:n.1500_1501insTTCTTGTAT
ENST00000689011.1:c.295_296insTTCTTGTAT
ENST00000003084.11:c.3713_3714insTTCTTGTAT MANE Select ENSP00000003084.6:p.Gln1238delinsHisSerCysMet
ENST00000647720.1:c.1167+196_1167+197insTTCTTGTAT
ENST00000648260.1:c.2495_2496insTTCTTGTAT ENSP00000497957.1:p.Gln832delinsHisSerCysMet
ENST00000649406.1:c.3530_3531insTTCTTGTAT ENSP00000497965.1:p.Gln1177delinsHisSerCysMet
ENST00000649781.1:c.3530_3531insTTCTTGTAT ENSP00000497203.1:p.Gln1177delinsHisSerCysMet
ENST00000003084.10:c.3713_3714insTTCTTGTAT ENSP00000003084.6:p.Gln1238delinsHisSerCysMet
ENST00000426809.5:c.3623_3624insTTCTTGTAT ENSP00000389119.1:p.Gln1208delinsHisSerCysMet
ENST00000468795.1:c.538_539insTTCTTGTAT
NM_000492.3:c.3713_3714insTTCTTGTAT , LRG_663t1:c.3713_3714insTTCTTGTAT NP_000483.3:p.Gln1238delinsHisSerCysMet
XM_011515751.1:c.3803_3804insTTCTTGTAT XP_011514053.1:p.Gln1268delinsHisSerCysMet
XM_011515752.1:c.3803_3804insTTCTTGTAT XP_011514054.1:p.Gln1268delinsHisSerCysMet
XM_011515753.1:c.3470_3471insTTCTTGTAT XP_011514055.1:p.Gln1157delinsHisSerCysMet
XM_011515754.1:c.3470_3471insTTCTTGTAT XP_011514056.1:p.Gln1157delinsHisSerCysMet
NM_000492.4:c.3713_3714insTTCTTGTAT MANE Select NP_000483.3:p.Gln1238delinsHisSerCysMet