Canonical Allele Identifier: CA2580076370
Community Standard Title: NM_000492.4(CFTR):c.3889del (p.Ser1297LeufsTer?)
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652857del , CM000669.2:g.117652857del GRCh38
NC_000007.13:g.117292911del , CM000669.1:g.117292911del GRCh37
NC_000007.12:g.117080147del NCBI36
NG_016465.4:g.192074del , LRG_663:g.192074del

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.3889del MANE Select NP_000483.3:p.Ser1297LeufsTer?
ENST00000003084.11:c.3889del MANE Select ENSP00000003084.6:p.Ser1297LeufsTer?
NM_000492.3:c.3889del , LRG_663t1:c.3889del NP_000483.3:p.Ser1297LeufsTer?
ENST00000003084.10:c.3889del ENSP00000003084.6:p.Ser1297LeufsTer?
ENST00000426809.5:c.3799del ENSP00000389119.1:p.Ser1267LeufsTer?
ENST00000600166.1:c.15del
ENST00000647720.1:c.1339del
ENST00000647720.2:c.*98del ENSP00000497673.2:n.*98del
ENST00000647978.2:c.*3603del ENSP00000497658.1:n.*3603del
ENST00000649781.1:c.3706del ENSP00000497203.1:p.Ser1236LeufsTer?
ENST00000649781.2:c.3706del ENSP00000497203.1:p.Ser1236LeufsTer?
ENST00000685018.1:c.753del ENSP00000510194.1:n.753del
ENST00000685018.2:c.*102del ENSP00000510194.2:n.*102del
ENST00000687278.1:c.1676del ENSP00000509593.1:n.1676del
ENST00000687278.2:c.*542del ENSP00000509593.2:n.*542del
ENST00000689011.1:c.471del
ENST00000699585.1:c.*98del ENSP00000514456.1:n.*98del
ENST00000699598.1:c.3889del ENSP00000514467.1:p.Ser1297LeufsTer?
ENST00000699599.1:c.*102del ENSP00000514468.1:n.*102del
ENST00000699600.1:c.*550del ENSP00000514469.1:n.*550del
ENST00000699601.1:c.*2264del ENSP00000514470.1:n.*2264del
ENST00000699602.1:c.3883del ENSP00000514471.1:p.Ser1295LeufsTer?
ENST00000699604.1:c.*3713del ENSP00000514472.1:n.*3713del
ENST00000699605.1:c.3463del ENSP00000514473.1:p.Ser1155LeufsTer?
ENST00000699606.1:n.2057del
XM_011515751.1:c.3979del XP_011514053.1:p.Ser1327LeufsTer?
XM_011515752.1:c.3979del XP_011514054.1:p.Ser1327LeufsTer?
XM_011515753.1:c.3646del XP_011514055.1:p.Ser1216LeufsTer?
XM_011515754.1:c.3646del XP_011514056.1:p.Ser1216LeufsTer?