Canonical Allele Identifier: CA1139532363

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590440dup , CM000669.2:g.117590440dup	GRCh38
NC_000007.13:g.117230494dup , CM000669.1:g.117230494dup	GRCh37
NC_000007.12:g.117017730dup	NCBI36
NG_016465.4:g.129657dup , LRG_663:g.129657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+1dup
ENST00000647978.2:c.*1480+1dup
ENST00000649781.2:c.1583+1dup
ENST00000685018.2:c.1766+1dup
ENST00000687278.2:c.1766+1dup
ENST00000699585.1:c.1766+1dup
ENST00000699598.1:c.1766+1dup
ENST00000699599.1:c.1766+1dup
ENST00000699600.1:c.1766+1dup
ENST00000699601.1:c.*66+1dup
ENST00000699602.1:c.1766+1dup
ENST00000699604.1:c.*1590+1dup
ENST00000699605.1:c.1340+1dup
ENST00000003084.11:c.1766+1dup
ENST00000647978.1:c.*1480+1dup
ENST00000648260.1:c.1402-12386dup	ENSP00000497957.1:n.1402-12386dup
ENST00000649406.1:c.1583+1dup
ENST00000649781.1:c.1583+1dup
ENST00000003084.10:c.1766+1dup
ENST00000426809.5:c.1676+1dup
NM_000492.3:c.1766+1dup , LRG_663t1:c.1766+1dup
XM_011515751.1:c.1856+1dup
XM_011515752.1:c.1856+1dup
XM_011515753.1:c.1523+1dup
XM_011515754.1:c.1523+1dup
NM_000492.4:c.1766+1dup