Canonical Allele Identifier: CA1737340267

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509040_117509044delinsGGATA , CM000669.2:g.117509040_117509044delinsGGATA	GRCh38
NC_000007.13:g.117149094_117149098delinsGGATA , CM000669.1:g.117149094_117149098delinsGGATA	GRCh37
NC_000007.12:g.116936330_116936334delinsGGATA	NCBI36
NG_016465.4:g.48257_48261delinsGGATA , LRG_663:g.48257_48261delinsGGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.171_175delinsGGATA	ENSP00000497673.2:p.Trp57=
ENST00000647978.2:c.*68_*72delinsGGATA	ENSP00000497658.1:n.*68_*72delinsGGATA
ENST00000649781.2:c.171_175delinsGGATA	ENSP00000497203.1:p.Trp57=
ENST00000649850.2:c.*68_*72delinsGGATA	ENSP00000514457.1:n.*68_*72delinsGGATA
ENST00000685018.2:c.171_175delinsGGATA	ENSP00000510194.2:p.Trp57=
ENST00000687278.2:c.171_175delinsGGATA	ENSP00000509593.2:p.Trp57=
ENST00000699585.1:c.171_175delinsGGATA	ENSP00000514456.1:p.Trp57=
ENST00000699596.1:c.171_175delinsGGATA	ENSP00000514465.1:p.Trp57=
ENST00000699597.1:c.171_175delinsGGATA	ENSP00000514466.1:p.Trp57=
ENST00000699598.1:c.171_175delinsGGATA	ENSP00000514467.1:p.Trp57=
ENST00000699599.1:c.171_175delinsGGATA	ENSP00000514468.1:p.Trp57=
ENST00000699600.1:c.171_175delinsGGATA	ENSP00000514469.1:p.Trp57=
ENST00000699601.1:c.171_175delinsGGATA	ENSP00000514470.1:p.Trp57=
ENST00000699602.1:c.171_175delinsGGATA	ENSP00000514471.1:p.Trp57=
ENST00000699604.1:c.169_173delinsGGATA	ENSP00000514472.1:p.Gly57=
ENST00000699605.1:c.-73_-69delinsGGATA	ENSP00000514473.1:n.-73_-69delinsGGATA
ENST00000446805.2:c.-73_-69delinsGGATA	ENSP00000417012.1:n.-73_-69delinsGGATA
ENST00000003084.11:c.171_175delinsGGATA MANE Select	ENSP00000003084.6:p.Trp57=
ENST00000647639.1:n.255_259delinsGGATA
ENST00000647978.1:c.*68_*72delinsGGATA	ENSP00000497658.1:n.*68_*72delinsGGATA
ENST00000648260.1:c.171_175delinsGGATA	ENSP00000497957.1:p.Trp57=
ENST00000649406.1:c.171_175delinsGGATA	ENSP00000497965.1:p.Trp57=
ENST00000649781.1:c.171_175delinsGGATA	ENSP00000497203.1:p.Trp57=
ENST00000649850.1:n.328_332delinsGGATA
ENST00000673785.1:c.-73_-69delinsGGATA	ENSP00000501235.1:n.-73_-69delinsGGATA
ENST00000003084.10:c.171_175delinsGGATA	ENSP00000003084.6:p.Trp57=
ENST00000426809.5:c.171_175delinsGGATA	ENSP00000389119.1:p.Trp57=
ENST00000446805.1:c.-73_-69delinsGGATA	ENSP00000417012.1:n.-73_-69delinsGGATA
NM_000492.3:c.171_175delinsGGATA , LRG_663t1:c.171_175delinsGGATA	NP_000483.3:p.Trp57=
XM_011515751.1:c.261_265delinsGGATA	XP_011514053.1:p.Trp87=
XM_011515752.1:c.261_265delinsGGATA	XP_011514054.1:p.Trp87=
XM_011515753.1:c.-73_-69delinsGGATA	XP_011514055.1:n.-73_-69delinsGGATA
XM_011515754.1:c.-73_-69delinsGGATA	XP_011514056.1:n.-73_-69delinsGGATA
NM_000492.4:c.171_175delinsGGATA MANE Select	NP_000483.3:p.Trp57=