Canonical Allele Identifier: CA3266885209
Community Standard Title: NM_000492.4(CFTR):c.2547_2600del (p.Tyr849Ter)
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117594986_117595039del , CM000669.2:g.117594986_117595039del GRCh38
NC_000007.13:g.117235040_117235093del , CM000669.1:g.117235040_117235093del GRCh37
NC_000007.12:g.117022276_117022329del NCBI36
NG_016465.4:g.134203_134256del , LRG_663:g.134203_134256del

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.2547_2600del MANE Select NP_000483.3:p.Tyr849Ter
ENST00000003084.11:c.2547_2600del MANE Select ENSP00000003084.6:p.Tyr849Ter
NM_000492.3:c.2547_2600del , LRG_663t1:c.2547_2600del NP_000483.3:p.Tyr849Ter
ENST00000003084.10:c.2547_2600del ENSP00000003084.6:p.Tyr849Ter
ENST00000426809.5:c.2457_2510del ENSP00000389119.1:p.Tyr819Ter
ENST00000647720.1:c.197_250del
ENST00000647720.2:c.2547_2600del ENSP00000497673.2:p.Tyr849Ter
ENST00000647978.2:c.*2261_*2314del ENSP00000497658.1:n.*2261_*2314del
ENST00000648260.1:c.1402-7840_1402-7787del ENSP00000497957.1:n.1402-7840_1402-7787del
ENST00000649406.1:c.2364_2417del ENSP00000497965.1:p.Tyr788Ter
ENST00000649781.1:c.2364_2417del ENSP00000497203.1:p.Tyr788Ter
ENST00000649781.2:c.2364_2417del ENSP00000497203.1:p.Tyr788Ter
ENST00000685018.2:c.2547_2600del ENSP00000510194.2:p.Tyr849Ter
ENST00000687278.1:c.138_191del ENSP00000509593.1:p.Tyr46Ter
ENST00000687278.2:c.2547_2600del ENSP00000509593.2:p.Tyr849Ter
ENST00000699585.1:c.2547_2600del ENSP00000514456.1:p.Tyr849Ter
ENST00000699598.1:c.2547_2600del ENSP00000514467.1:p.Tyr849Ter
ENST00000699599.1:c.2547_2600del ENSP00000514468.1:p.Tyr849Ter
ENST00000699600.1:c.2547_2600del ENSP00000514469.1:p.Tyr849Ter
ENST00000699601.1:c.*847_*900del ENSP00000514470.1:n.*847_*900del
ENST00000699602.1:c.2547_2600del ENSP00000514471.1:p.Tyr849Ter
ENST00000699604.1:c.*2371_*2424del ENSP00000514472.1:n.*2371_*2424del
ENST00000699605.1:c.2121_2174del ENSP00000514473.1:p.Tyr707Ter
XM_011515751.1:c.2637_2690del XP_011514053.1:p.Tyr879Ter
XM_011515752.1:c.2637_2690del XP_011514054.1:p.Tyr879Ter
XM_011515753.1:c.2304_2357del XP_011514055.1:p.Tyr768Ter
XM_011515754.1:c.2304_2357del XP_011514056.1:p.Tyr768Ter