Canonical Allele Identifier: CA2580076387
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1706011
ClinVar RCV Id: RCV002284541

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611763_117611764del , CM000669.2:g.117611763_117611764del GRCh38
NC_000007.13:g.117251817_117251818del , CM000669.1:g.117251817_117251818del GRCh37
NC_000007.12:g.117039053_117039054del NCBI36
NG_016465.4:g.150980_150981del , LRG_663:g.150980_150981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3322_3323del ENSP00000497673.2:p.Val1108HisfsTer?
ENST00000647978.2:c.*3036_*3037del ENSP00000497658.1:n.*3036_*3037del
ENST00000649781.2:c.3139_3140del ENSP00000497203.1:p.Val1047HisfsTer?
ENST00000685018.2:c.3322_3323del ENSP00000510194.2:p.Val1108HisfsTer?
ENST00000687278.2:c.3322_3323del ENSP00000509593.2:p.Val1108HisfsTer?
ENST00000699585.1:c.3322_3323del ENSP00000514456.1:p.Val1108HisfsTer?
ENST00000699598.1:c.3322_3323del ENSP00000514467.1:p.Val1108HisfsTer?
ENST00000699599.1:c.3322_3323del ENSP00000514468.1:p.Val1108HisfsTer?
ENST00000699600.1:c.3322_3323del ENSP00000514469.1:p.Val1108HisfsTer?
ENST00000699601.1:c.*1622_*1623del ENSP00000514470.1:n.*1622_*1623del
ENST00000699602.1:c.3322_3323del ENSP00000514471.1:p.Val1108HisfsTer?
ENST00000699604.1:c.*3146_*3147del ENSP00000514472.1:n.*3146_*3147del
ENST00000699605.1:c.2896_2897del ENSP00000514473.1:p.Val966HisfsTer?
ENST00000685018.1:c.70_71del ENSP00000510194.1:p.Val24HisfsTer?
ENST00000687278.1:c.913_914del ENSP00000509593.1:p.Val305HisfsTer?
ENST00000003084.11:c.3322_3323del MANE Select ENSP00000003084.6:p.Val1108HisfsTer?
ENST00000647720.1:c.972_973del
ENST00000648260.1:c.2104_2105del ENSP00000497957.1:p.Val702HisfsTer?
ENST00000649406.1:c.3139_3140del ENSP00000497965.1:p.Val1047HisfsTer?
ENST00000649781.1:c.3139_3140del ENSP00000497203.1:p.Val1047HisfsTer?
ENST00000003084.10:c.3322_3323del ENSP00000003084.6:p.Val1108HisfsTer?
ENST00000426809.5:c.3232_3233del ENSP00000389119.1:p.Val1078HisfsTer?
ENST00000468795.1:c.147_148del
NM_000492.3:c.3322_3323del , LRG_663t1:c.3322_3323del NP_000483.3:p.Val1108HisfsTer?
XM_011515751.1:c.3412_3413del XP_011514053.1:p.Val1138HisfsTer?
XM_011515752.1:c.3412_3413del XP_011514054.1:p.Val1138HisfsTer?
XM_011515753.1:c.3079_3080del XP_011514055.1:p.Val1027HisfsTer?
XM_011515754.1:c.3079_3080del XP_011514056.1:p.Val1027HisfsTer?
NM_000492.4:c.3322_3323del MANE Select NP_000483.3:p.Val1108HisfsTer?