Canonical Allele Identifier: CA915945433
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 818144
ClinVar RCV Id: RCV001009456

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117609611_117610615delinsGACAG , CM000669.2:g.117609611_117610615delinsGACAG GRCh38
NC_000007.13:g.117249665_117250669delinsGACAG , CM000669.1:g.117249665_117250669delinsGACAG GRCh37
NC_000007.12:g.117036901_117037905delinsGACAG NCBI36
NG_016465.4:g.148828_149832delinsGACAG , LRG_663:g.148828_149832delinsGACAG

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2989-908_3085delinsGACAG
ENST00000647978.2:c.*2703-908_*2799delinsGACAG
ENST00000649781.2:c.2806-908_2902delinsGACAG
ENST00000685018.2:c.2989-908_3085delinsGACAG
ENST00000687278.2:c.2989-908_3085delinsGACAG
ENST00000699585.1:c.2989-908_3085delinsGACAG
ENST00000699598.1:c.2989-908_3085delinsGACAG
ENST00000699599.1:c.2989-908_3085delinsGACAG
ENST00000699600.1:c.2989-908_3085delinsGACAG
ENST00000699601.1:c.*1289-908_*1385delinsGACAG
ENST00000699602.1:c.2989-908_3085delinsGACAG
ENST00000699604.1:c.*2813-908_*2909delinsGACAG
ENST00000699605.1:c.2563-908_2659delinsGACAG
ENST00000687278.1:c.580-908_676delinsGACAG
ENST00000003084.11:c.2989-908_3085delinsGACAG
ENST00000647720.1:c.639-908_735delinsGACAG
ENST00000648260.1:c.1771-908_1867delinsGACAG
ENST00000649406.1:c.2806-908_2902delinsGACAG
ENST00000649781.1:c.2806-908_2902delinsGACAG
ENST00000003084.10:c.2989-908_3085delinsGACAG
ENST00000426809.5:c.2899-908_2995delinsGACAG
NM_000492.3:c.2989-908_3085delinsGACAG , LRG_663t1:c.2989-908_3085delinsGACAG
XM_011515751.1:c.3079-908_3175delinsGACAG
XM_011515752.1:c.3079-908_3175delinsGACAG
XM_011515753.1:c.2746-908_2842delinsGACAG
XM_011515754.1:c.2746-908_2842delinsGACAG
NM_000492.4:c.2989-908_3085delinsGACAG