Canonical Allele Identifier: CA2562822052
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610567_117610568insTGTAAGATCAAAGAAAA , CM000669.2:g.117610567_117610568insTGTAAGATCAAAGAAAA GRCh38
NC_000007.13:g.117250621_117250622insTGTAAGATCAAAGAAAA , CM000669.1:g.117250621_117250622insTGTAAGATCAAAGAAAA GRCh37
NC_000007.12:g.117037857_117037858insTGTAAGATCAAAGAAAA NCBI36
NG_016465.4:g.149784_149785insTGTAAGATCAAAGAAAA , LRG_663:g.149784_149785insTGTAAGATCAAAGAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000497673.2:p.Pro1013LeufsTer2
ENST00000647978.2:c.*2751_*2752insTGTAAGATCAAAGAAAA ENSP00000497658.1:n.*2751_*2752insTGTAAGA...
ENST00000649781.2:c.2854_2855insTGTAAGATCAAAGAAAA ENSP00000497203.1:p.Pro952LeufsTer2
ENST00000685018.2:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000510194.2:p.Pro1013LeufsTer2
ENST00000687278.2:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000509593.2:p.Pro1013LeufsTer2
ENST00000699585.1:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000514456.1:p.Pro1013LeufsTer2
ENST00000699598.1:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000514467.1:p.Pro1013LeufsTer2
ENST00000699599.1:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000514468.1:p.Pro1013LeufsTer2
ENST00000699600.1:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000514469.1:p.Pro1013LeufsTer2
ENST00000699601.1:c.*1337_*1338insTGTAAGATCAAAGAAAA ENSP00000514470.1:n.*1337_*1338insTGTAAGA...
ENST00000699602.1:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000514471.1:p.Pro1013LeufsTer2
ENST00000699604.1:c.*2861_*2862insTGTAAGATCAAAGAAAA ENSP00000514472.1:n.*2861_*2862insTGTAAGA...
ENST00000699605.1:c.2611_2612insTGTAAGATCAAAGAAAA ENSP00000514473.1:p.Pro871LeufsTer2
ENST00000687278.1:c.628_629insTGTAAGATCAAAGAAAA ENSP00000509593.1:p.Pro210LeufsTer2
ENST00000003084.11:c.3037_3038insTGTAAGATCAAAGAAAA MANE Select ENSP00000003084.6:p.Pro1013LeufsTer2
ENST00000647720.1:c.687_688insTGTAAGATCAAAGAAAA
ENST00000648260.1:c.1819_1820insTGTAAGATCAAAGAAAA ENSP00000497957.1:p.Pro607LeufsTer2
ENST00000649406.1:c.2854_2855insTGTAAGATCAAAGAAAA ENSP00000497965.1:p.Pro952LeufsTer2
ENST00000649781.1:c.2854_2855insTGTAAGATCAAAGAAAA ENSP00000497203.1:p.Pro952LeufsTer2
ENST00000003084.10:c.3037_3038insTGTAAGATCAAAGAAAA ENSP00000003084.6:p.Pro1013LeufsTer2
ENST00000426809.5:c.2947_2948insTGTAAGATCAAAGAAAA ENSP00000389119.1:p.Pro983LeufsTer2
NM_000492.3:c.3037_3038insTGTAAGATCAAAGAAAA , LRG_663t1:c.3037_3038insTGTAAGATCAAAGAAAA NP_000483.3:p.Pro1013LeufsTer2
XM_011515751.1:c.3127_3128insTGTAAGATCAAAGAAAA XP_011514053.1:p.Pro1043LeufsTer2
XM_011515752.1:c.3127_3128insTGTAAGATCAAAGAAAA XP_011514054.1:p.Pro1043LeufsTer2
XM_011515753.1:c.2794_2795insTGTAAGATCAAAGAAAA XP_011514055.1:p.Pro932LeufsTer2
XM_011515754.1:c.2794_2795insTGTAAGATCAAAGAAAA XP_011514056.1:p.Pro932LeufsTer2
NM_000492.4:c.3037_3038insTGTAAGATCAAAGAAAA MANE Select NP_000483.3:p.Pro1013LeufsTer2