Canonical Allele Identifier: CA1737392455

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590410_117590411delinsTG , CM000669.2:g.117590410_117590411delinsTG	GRCh38
NC_000007.13:g.117230464_117230465delinsTG , CM000669.1:g.117230464_117230465delinsTG	GRCh37
NC_000007.12:g.117017700_117017701delinsTG	NCBI36
NG_016465.4:g.129627_129628delinsTG , LRG_663:g.129627_129628delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1737_1738delinsTG	ENSP00000497673.2:p.Asp579=
ENST00000647978.2:c.*1451_*1452delinsTG	ENSP00000497658.1:n.*1451_*1452delinsTG
ENST00000649781.2:c.1554_1555delinsTG	ENSP00000497203.1:p.Asp518=
ENST00000685018.2:c.1737_1738delinsTG	ENSP00000510194.2:p.Asp579=
ENST00000687278.2:c.1737_1738delinsTG	ENSP00000509593.2:p.Asp579=
ENST00000699585.1:c.1737_1738delinsTG	ENSP00000514456.1:p.Asp579=
ENST00000699598.1:c.1737_1738delinsTG	ENSP00000514467.1:p.Asp579=
ENST00000699599.1:c.1737_1738delinsTG	ENSP00000514468.1:p.Asp579=
ENST00000699600.1:c.1737_1738delinsTG	ENSP00000514469.1:p.Asp579=
ENST00000699601.1:c.*37_*38delinsTG	ENSP00000514470.1:n.*37_*38delinsTG
ENST00000699602.1:c.1737_1738delinsTG	ENSP00000514471.1:p.Asp579=
ENST00000699604.1:c.*1561_*1562delinsTG	ENSP00000514472.1:n.*1561_*1562delinsTG
ENST00000699605.1:c.1311_1312delinsTG	ENSP00000514473.1:p.Asp437=
ENST00000003084.11:c.1737_1738delinsTG MANE Select	ENSP00000003084.6:p.Asp579=
ENST00000647978.1:c.*1451_*1452delinsTG	ENSP00000497658.1:n.*1451_*1452delinsTG
ENST00000648260.1:c.1402-12416_1402-12415delinsTG	ENSP00000497957.1:n.1402-12416_1402-12415delinsTG
ENST00000649406.1:c.1554_1555delinsTG	ENSP00000497965.1:p.Asp518=
ENST00000649781.1:c.1554_1555delinsTG	ENSP00000497203.1:p.Asp518=
ENST00000003084.10:c.1737_1738delinsTG	ENSP00000003084.6:p.Asp579=
ENST00000426809.5:c.1647_1648delinsTG	ENSP00000389119.1:p.Asp549=
NM_000492.3:c.1737_1738delinsTG , LRG_663t1:c.1737_1738delinsTG	NP_000483.3:p.Asp579=
XM_011515751.1:c.1827_1828delinsTG	XP_011514053.1:p.Asp609=
XM_011515752.1:c.1827_1828delinsTG	XP_011514054.1:p.Asp609=
XM_011515753.1:c.1494_1495delinsTG	XP_011514055.1:p.Asp498=
XM_011515754.1:c.1494_1495delinsTG	XP_011514056.1:p.Asp498=
NM_000492.4:c.1737_1738delinsTG MANE Select	NP_000483.3:p.Asp579=