Canonical Allele Identifier: CA2740880943

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534274_117534277del , CM000669.2:g.117534274_117534277del	GRCh38
NC_000007.13:g.117174328_117174331del , CM000669.1:g.117174328_117174331del	GRCh37
NC_000007.12:g.116961564_116961567del	NCBI36
NG_016465.4:g.73491_73494del , LRG_663:g.73491_73494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.490-2_491del
ENST00000647978.2:c.*387-2_*388del
ENST00000649781.2:c.490-2_491del
ENST00000685018.2:c.490-2_491del
ENST00000687278.2:c.490-2_491del
ENST00000699585.1:c.490-2_491del
ENST00000699596.1:c.490-2_491del
ENST00000699597.1:c.490-2_491del
ENST00000699598.1:c.490-2_491del
ENST00000699599.1:c.490-2_491del
ENST00000699600.1:c.490-2_491del
ENST00000699601.1:c.490-2_491del
ENST00000699602.1:c.490-2_491del
ENST00000699604.1:c.*314-2_*315del
ENST00000699605.1:c.247-2_248del
ENST00000003084.11:c.490-2_491del
ENST00000647978.1:c.*387-2_*388del
ENST00000648260.1:c.490-2_491del
ENST00000649406.1:c.490-2_491del
ENST00000649781.1:c.490-2_491del
ENST00000673785.1:c.247-2_248del
ENST00000003084.10:c.490-2_491del
ENST00000426809.5:c.490-974_490-971del	ENSP00000389119.1:n.490-974_490-971del
NM_000492.3:c.490-2_491del , LRG_663t1:c.490-2_491del
XM_011515751.1:c.580-2_581del
XM_011515752.1:c.580-2_581del
XM_011515753.1:c.247-2_248del
XM_011515754.1:c.247-2_248del
NM_000492.4:c.490-2_491del