Canonical Allele Identifier: CA913111879

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232262_117232263del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592208_117592209del , CM000669.2:g.117592208_117592209del	GRCh38
NC_000007.13:g.117232262_117232263del , CM000669.1:g.117232262_117232263del	GRCh37
NC_000007.12:g.117019498_117019499del	NCBI36
NG_016465.4:g.131425_131426del , LRG_663:g.131425_131426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2041_2042del	ENSP00000497673.2:p.Glu681AsnfsTer7
ENST00000647978.2:c.*1755_*1756del	ENSP00000497658.1:n.*1755_*1756del
ENST00000649781.2:c.1858_1859del	ENSP00000497203.1:p.Glu620AsnfsTer7
ENST00000685018.2:c.2041_2042del	ENSP00000510194.2:p.Glu681AsnfsTer7
ENST00000687278.2:c.2041_2042del	ENSP00000509593.2:p.Glu681AsnfsTer7
ENST00000699585.1:c.2041_2042del	ENSP00000514456.1:p.Glu681AsnfsTer7
ENST00000699598.1:c.2041_2042del	ENSP00000514467.1:p.Glu681AsnfsTer7
ENST00000699599.1:c.2041_2042del	ENSP00000514468.1:p.Glu681AsnfsTer7
ENST00000699600.1:c.2041_2042del	ENSP00000514469.1:p.Glu681AsnfsTer7
ENST00000699601.1:c.*341_*342del	ENSP00000514470.1:n.*341_*342del
ENST00000699602.1:c.2041_2042del	ENSP00000514471.1:p.Glu681AsnfsTer7
ENST00000699604.1:c.*1865_*1866del	ENSP00000514472.1:n.*1865_*1866del
ENST00000699605.1:c.1615_1616del	ENSP00000514473.1:p.Glu539AsnfsTer7
ENST00000003084.11:c.2041_2042del MANE Select	ENSP00000003084.6:p.Glu681AsnfsTer7
ENST00000647978.1:c.*1755_*1756del	ENSP00000497658.1:n.*1755_*1756del
ENST00000648260.1:c.1402-10618_1402-10617del	ENSP00000497957.1:n.1402-10618_1402-10617del
ENST00000649406.1:c.1858_1859del	ENSP00000497965.1:p.Glu620AsnfsTer7
ENST00000649781.1:c.1858_1859del	ENSP00000497203.1:p.Glu620AsnfsTer7
ENST00000003084.10:c.2041_2042del	ENSP00000003084.6:p.Glu681AsnfsTer7
ENST00000426809.5:c.1951_1952del	ENSP00000389119.1:p.Glu651AsnfsTer7
NM_000492.3:c.2041_2042del , LRG_663t1:c.2041_2042del	NP_000483.3:p.Glu681AsnfsTer7
XM_011515751.1:c.2131_2132del	XP_011514053.1:p.Glu711AsnfsTer7
XM_011515752.1:c.2131_2132del	XP_011514054.1:p.Glu711AsnfsTer7
XM_011515753.1:c.1798_1799del	XP_011514055.1:p.Glu600AsnfsTer7
XM_011515754.1:c.1798_1799del	XP_011514056.1:p.Glu600AsnfsTer7
NM_000492.4:c.2041_2042del MANE Select	NP_000483.3:p.Glu681AsnfsTer7