Canonical Allele Identifier: CA1737391916

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614610_117614613delinsTAGG , CM000669.2:g.117614610_117614613delinsTAGG	GRCh38
NC_000007.13:g.117254664_117254667delinsTAGG , CM000669.1:g.117254664_117254667delinsTAGG	GRCh37
NC_000007.12:g.117041900_117041903delinsTAGG	NCBI36
NG_016465.4:g.153827_153830delinsTAGG , LRG_663:g.153827_153830delinsTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-3_3368delinsTAGG
ENST00000647978.2:c.*3082-3_*3082delinsTAGG
ENST00000649781.2:c.3185-3_3185delinsTAGG
ENST00000685018.2:c.3368-3_3368delinsTAGG
ENST00000687278.2:c.3368-3_3368delinsTAGG
ENST00000699585.1:c.3368-3_3368delinsTAGG
ENST00000699598.1:c.3368-3_3368delinsTAGG
ENST00000699599.1:c.3368-3_3368delinsTAGG
ENST00000699600.1:c.3368-3_3368delinsTAGG
ENST00000699601.1:c.*1740_*1743delinsTAGG	ENSP00000514470.1:n.*1740_*1743delinsTAGG
ENST00000699602.1:c.3368-9_3368-6delinsTAGG	ENSP00000514471.1:n.3368-9_3368-6delinsTAGG
ENST00000699604.1:c.*3192-3_*3192delinsTAGG
ENST00000699605.1:c.2942-3_2942delinsTAGG
ENST00000685018.1:c.116-3_116delinsTAGG
ENST00000687278.1:c.959-3_959delinsTAGG
ENST00000003084.11:c.3368-3_3368delinsTAGG
ENST00000647720.1:c.1018-3_1018delinsTAGG
ENST00000648260.1:c.2150-3_2150delinsTAGG
ENST00000649406.1:c.3185-3_3185delinsTAGG
ENST00000649781.1:c.3185-3_3185delinsTAGG
ENST00000003084.10:c.3368-3_3368delinsTAGG
ENST00000426809.5:c.3278-3_3278delinsTAGG
ENST00000468795.1:c.193-3_193delinsTAGG
NM_000492.3:c.3368-3_3368delinsTAGG , LRG_663t1:c.3368-3_3368delinsTAGG
XM_011515751.1:c.3458-3_3458delinsTAGG
XM_011515752.1:c.3458-3_3458delinsTAGG
XM_011515753.1:c.3125-3_3125delinsTAGG
XM_011515754.1:c.3125-3_3125delinsTAGG
NM_000492.4:c.3368-3_3368delinsTAGG