Canonical Allele Identifier: CA645541519
Gene: CFTR HGNC NCBI

Linked Data

COSMIC: COSM54572

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610521_117610523del , CM000669.2:g.117610521_117610523del GRCh38
NC_000007.13:g.117250575_117250577del , CM000669.1:g.117250575_117250577del GRCh37
NC_000007.12:g.117037811_117037813del NCBI36
NG_016465.4:g.149738_149740del , LRG_663:g.149738_149740del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2991_2993del
ENST00000647978.2:c.*2705_*2707del
ENST00000649781.2:c.2808_2810del
ENST00000685018.2:c.2991_2993del
ENST00000687278.2:c.2991_2993del
ENST00000699585.1:c.2991_2993del
ENST00000699598.1:c.2991_2993del
ENST00000699599.1:c.2991_2993del
ENST00000699600.1:c.2991_2993del
ENST00000699601.1:c.*1291_*1293del
ENST00000699602.1:c.2991_2993del
ENST00000699604.1:c.*2815_*2817del
ENST00000699605.1:c.2565_2567del
ENST00000687278.1:c.582_584del
ENST00000003084.11:c.2991_2993del
ENST00000647720.1:c.641_643del
ENST00000648260.1:c.1773_1775del
ENST00000649406.1:c.2808_2810del
ENST00000649781.1:c.2808_2810del
ENST00000003084.10:c.2991_2993del
ENST00000426809.5:c.2901_2903del
NM_000492.3:c.2991_2993del , LRG_663t1:c.2991_2993del
XM_011515751.1:c.3081_3083del
XM_011515752.1:c.3081_3083del
XM_011515753.1:c.2748_2750del
XM_011515754.1:c.2748_2750del
NM_000492.4:c.2991_2993del