Canonical Allele Identifier: CA2715457499

Gene: CFTR

Linked Data

• dbSNP Id: rs2116032209

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592338_117592341del , CM000669.2:g.117592338_117592341del	GRCh38
NC_000007.13:g.117232392_117232395del , CM000669.1:g.117232392_117232395del	GRCh37
NC_000007.12:g.117019628_117019631del	NCBI36
NG_016465.4:g.131555_131558del , LRG_663:g.131555_131558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2171_2174del	ENSP00000497673.2:p.Ile724LysfsTer8
ENST00000647978.2:c.*1885_*1888del	ENSP00000497658.1:n.*1885_*1888del
ENST00000649781.2:c.1988_1991del	ENSP00000497203.1:p.Ile663LysfsTer8
ENST00000685018.2:c.2171_2174del	ENSP00000510194.2:p.Ile724LysfsTer8
ENST00000687278.2:c.2171_2174del	ENSP00000509593.2:p.Ile724LysfsTer8
ENST00000699585.1:c.2171_2174del	ENSP00000514456.1:p.Ile724LysfsTer8
ENST00000699598.1:c.2171_2174del	ENSP00000514467.1:p.Ile724LysfsTer8
ENST00000699599.1:c.2171_2174del	ENSP00000514468.1:p.Ile724LysfsTer8
ENST00000699600.1:c.2171_2174del	ENSP00000514469.1:p.Ile724LysfsTer8
ENST00000699601.1:c.*471_*474del	ENSP00000514470.1:n.*471_*474del
ENST00000699602.1:c.2171_2174del	ENSP00000514471.1:p.Ile724LysfsTer8
ENST00000699604.1:c.*1995_*1998del	ENSP00000514472.1:n.*1995_*1998del
ENST00000699605.1:c.1745_1748del	ENSP00000514473.1:p.Ile582LysfsTer8
ENST00000003084.11:c.2171_2174del MANE Select	ENSP00000003084.6:p.Ile724LysfsTer8
ENST00000647978.1:c.*1885_*1888del	ENSP00000497658.1:n.*1885_*1888del
ENST00000648260.1:c.1402-10488_1402-10485del	ENSP00000497957.1:n.1402-10488_1402-10485del
ENST00000649406.1:c.1988_1991del	ENSP00000497965.1:p.Ile663LysfsTer8
ENST00000649781.1:c.1988_1991del	ENSP00000497203.1:p.Ile663LysfsTer8
ENST00000003084.10:c.2171_2174del	ENSP00000003084.6:p.Ile724LysfsTer8
ENST00000426809.5:c.2081_2084del	ENSP00000389119.1:p.Ile694LysfsTer8
NM_000492.3:c.2171_2174del , LRG_663t1:c.2171_2174del	NP_000483.3:p.Ile724LysfsTer8
XM_011515751.1:c.2261_2264del	XP_011514053.1:p.Ile754LysfsTer8
XM_011515752.1:c.2261_2264del	XP_011514054.1:p.Ile754LysfsTer8
XM_011515753.1:c.1928_1931del	XP_011514055.1:p.Ile643LysfsTer8
XM_011515754.1:c.1928_1931del	XP_011514056.1:p.Ile643LysfsTer8
NM_000492.4:c.2171_2174del MANE Select	NP_000483.3:p.Ile724LysfsTer8