Canonical Allele Identifier: CA2580076326

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1705868
• ClinVar RCV Id: RCV002284242

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559650_117559666del , CM000669.2:g.117559650_117559666del	GRCh38
NC_000007.13:g.117199704_117199720del , CM000669.1:g.117199704_117199720del	GRCh37
NC_000007.12:g.116986940_116986956del	NCBI36
NG_016465.4:g.98867_98883del , LRG_663:g.98867_98883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1579_1584+11del (CFTR)
ENST00000647978.2:c.*1293_*1298+11del (CFTR)
ENST00000649781.2:c.1396_1401+11del (CFTR)
ENST00000685018.2:c.1579_1584+11del (CFTR)
ENST00000687278.2:c.1579_1584+11del (CFTR)
ENST00000699585.1:c.1579_1584+11del (CFTR)
ENST00000699596.1:c.1579_1595del (CFTR)	ENSP00000514465.1:p.Glu527CysfsTer?
ENST00000699597.1:c.*137_*153del (CFTR)	ENSP00000514466.1:n.*137_*153del
ENST00000699598.1:c.1579_1584+11del (CFTR)
ENST00000699599.1:c.1579_1584+11del (CFTR)
ENST00000699600.1:c.1579_1584+11del (CFTR)
ENST00000699601.1:c.1579_1584+11del (CFTR)
ENST00000699602.1:c.1579_1584+11del (CFTR)
ENST00000699604.1:c.*1403_*1408+11del (CFTR)
ENST00000699605.1:c.1153_1158+11del (CFTR)
ENST00000003084.11:c.1579_1584+11del (CFTR)
ENST00000647978.1:c.*1293_*1298+11del (CFTR)
ENST00000648260.1:c.1396_1401+11del (CFTR)
ENST00000649406.1:c.1396_1401+11del (CFTR)
ENST00000649781.1:c.1396_1401+11del (CFTR)
ENST00000003084.10:c.1579_1584+11del (CFTR)
ENST00000426809.5:c.1489_1494+11del (CFTR)
ENST00000472848.1:n.13_18+11del (CFTR)
NM_000492.3:c.1579_1584+11del , LRG_663t1:c.1579_1584+11del (CFTR)
XM_011515751.1:c.1669_1674+11del (CFTR)
XM_011515752.1:c.1669_1674+11del (CFTR)
XM_011515753.1:c.1336_1341+11del (CFTR)
XM_011515754.1:c.1336_1341+11del (CFTR)
NR_149084.1:n.221+1072_221+1088del (CFTR-AS1)
NM_000492.4:c.1579_1584+11del (CFTR)