Canonical Allele Identifier: CA325544
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7149
dbSNP Id: rs121908788

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603611_117603612insG , CM000669.2:g.117603611_117603612insG GRCh38
NC_000007.13:g.117243665_117243666insG , CM000669.1:g.117243665_117243666insG GRCh37
NC_000007.12:g.117030901_117030902insG NCBI36
NG_016465.4:g.142828_142829insG , LRG_663:g.142828_142829insG

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2737_2738insG ENSP00000497673.2:p.Tyr913Ter
ENST00000647978.2:c.*2451_*2452insG ENSP00000497658.1:n.*2451_*2452insG
ENST00000649781.2:c.2554_2555insG ENSP00000497203.1:p.Tyr852Ter
ENST00000685018.2:c.2737_2738insG ENSP00000510194.2:p.Tyr913Ter
ENST00000687278.2:c.2737_2738insG ENSP00000509593.2:p.Tyr913Ter
ENST00000699585.1:c.2737_2738insG ENSP00000514456.1:p.Tyr913Ter
ENST00000699598.1:c.2737_2738insG ENSP00000514467.1:p.Tyr913Ter
ENST00000699599.1:c.2737_2738insG ENSP00000514468.1:p.Tyr913Ter
ENST00000699600.1:c.2737_2738insG ENSP00000514469.1:p.Tyr913Ter
ENST00000699601.1:c.*1037_*1038insG ENSP00000514470.1:n.*1037_*1038insG
ENST00000699602.1:c.2737_2738insG ENSP00000514471.1:p.Tyr913Ter
ENST00000699604.1:c.*2561_*2562insG ENSP00000514472.1:n.*2561_*2562insG
ENST00000699605.1:c.2311_2312insG ENSP00000514473.1:p.Tyr771Ter
ENST00000687278.1:c.328_329insG ENSP00000509593.1:p.Tyr110Ter
ENST00000003084.11:c.2737_2738insG MANE Select ENSP00000003084.6:p.Tyr913Ter
ENST00000647720.1:c.387_388insG
ENST00000648260.1:c.1519_1520insG ENSP00000497957.1:p.Tyr507Ter
ENST00000649406.1:c.2554_2555insG ENSP00000497965.1:p.Tyr852Ter
ENST00000649781.1:c.2554_2555insG ENSP00000497203.1:p.Tyr852Ter
ENST00000003084.10:c.2737_2738insG ENSP00000003084.6:p.Tyr913Ter
ENST00000426809.5:c.2647_2648insG ENSP00000389119.1:p.Tyr883Ter
NM_000492.3:c.2737_2738insG , LRG_663t1:c.2737_2738insG NP_000483.3:p.Tyr913Ter
XM_011515751.1:c.2827_2828insG XP_011514053.1:p.Tyr943Ter
XM_011515752.1:c.2827_2828insG XP_011514054.1:p.Tyr943Ter
XM_011515753.1:c.2494_2495insG XP_011514055.1:p.Tyr832Ter
XM_011515754.1:c.2494_2495insG XP_011514056.1:p.Tyr832Ter
NM_000492.4:c.2737_2738insG MANE Select NP_000483.3:p.Tyr913Ter