Canonical Allele Identifier: CA327558
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53994
ClinVar RCV Id: RCV000577240

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117503092_117505966del , CM000669.2:g.117503092_117505966del GRCh38
NC_000007.13:g.117143146_117146020del , CM000669.1:g.117143146_117146020del GRCh37
NC_000007.12:g.116930382_116933256del NCBI36
NG_016465.4:g.42309_45183del , LRG_663:g.42309_45183del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.54-1161_164+1603del
ENST00000647978.2:c.54-1161_*61+738del
ENST00000649781.2:c.54-1161_164+1603del
ENST00000649850.2:c.54-1161_*61+738del
ENST00000685018.2:c.54-1161_164+1603del
ENST00000687278.2:c.54-1161_164+1603del
ENST00000693465.2:n.139-1161_250-1329del
ENST00000699585.1:c.54-1161_164+1603del
ENST00000699596.1:c.54-1161_164+1603del
ENST00000699597.1:c.54-1161_164+1603del
ENST00000699598.1:c.54-1161_164+1603del
ENST00000699599.1:c.54-1161_164+1603del
ENST00000699600.1:c.54-1161_164+1603del
ENST00000699601.1:c.54-1161_164+1603del
ENST00000699602.1:c.54-1161_164+1603del
ENST00000699604.1:c.54-1161_164+1603del
ENST00000699605.1:c.-190-1161_-80+1603del
ENST00000446805.2:c.-190-1161_-80+1603del
ENST00000693465.1:n.124-1161_235-1329del
ENST00000003084.11:c.54-1161_164+1603del
ENST00000647639.1:n.138-1161_248+1603del
ENST00000647978.1:c.54-1161_*61+738del
ENST00000648260.1:c.54-1161_164+1603del
ENST00000649406.1:c.54-1161_164+1603del
ENST00000649781.1:c.54-1161_164+1603del
ENST00000649850.1:n.137-1161_321+738del
ENST00000673785.1:c.-405-384_-80+1603del
ENST00000003084.10:c.54-1161_164+1603del
ENST00000426809.5:c.54-1161_164+1603del
ENST00000446805.1:c.-190-1161_-80+1603del
NM_000492.3:c.54-1161_164+1603del , LRG_663t1:c.54-1161_164+1603del
XM_011515751.1:c.144-1161_254+1603del
XM_011515752.1:c.144-1161_254+1603del
XM_011515753.1:c.-190-1161_-80+1603del
XM_011515754.1:c.-264-1161_-80+738del
NM_000492.4:c.54-1161_164+1603del