Canonical Allele Identifier: CA1737387588

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611764_117611765delinsTC , CM000669.2:g.117611764_117611765delinsTC	GRCh38
NC_000007.13:g.117251818_117251819delinsTC , CM000669.1:g.117251818_117251819delinsTC	GRCh37
NC_000007.12:g.117039054_117039055delinsTC	NCBI36
NG_016465.4:g.150981_150982delinsTC , LRG_663:g.150981_150982delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3323_3324delinsTC	ENSP00000497673.2:p.Val1108=
ENST00000647978.2:c.*3037_*3038delinsTC	ENSP00000497658.1:n.*3037_*3038delinsTC
ENST00000649781.2:c.3140_3141delinsTC	ENSP00000497203.1:p.Val1047=
ENST00000685018.2:c.3323_3324delinsTC	ENSP00000510194.2:p.Val1108=
ENST00000687278.2:c.3323_3324delinsTC	ENSP00000509593.2:p.Val1108=
ENST00000699585.1:c.3323_3324delinsTC	ENSP00000514456.1:p.Val1108=
ENST00000699598.1:c.3323_3324delinsTC	ENSP00000514467.1:p.Val1108=
ENST00000699599.1:c.3323_3324delinsTC	ENSP00000514468.1:p.Val1108=
ENST00000699600.1:c.3323_3324delinsTC	ENSP00000514469.1:p.Val1108=
ENST00000699601.1:c.*1623_*1624delinsTC	ENSP00000514470.1:n.*1623_*1624delinsTC
ENST00000699602.1:c.3323_3324delinsTC	ENSP00000514471.1:p.Val1108=
ENST00000699604.1:c.*3147_*3148delinsTC	ENSP00000514472.1:n.*3147_*3148delinsTC
ENST00000699605.1:c.2897_2898delinsTC	ENSP00000514473.1:p.Val966=
ENST00000685018.1:c.71_72delinsTC	ENSP00000510194.1:p.Val24=
ENST00000687278.1:c.914_915delinsTC	ENSP00000509593.1:p.Val305=
ENST00000003084.11:c.3323_3324delinsTC MANE Select	ENSP00000003084.6:p.Val1108=
ENST00000647720.1:c.973_974delinsTC
ENST00000648260.1:c.2105_2106delinsTC	ENSP00000497957.1:p.Val702=
ENST00000649406.1:c.3140_3141delinsTC	ENSP00000497965.1:p.Val1047=
ENST00000649781.1:c.3140_3141delinsTC	ENSP00000497203.1:p.Val1047=
ENST00000003084.10:c.3323_3324delinsTC	ENSP00000003084.6:p.Val1108=
ENST00000426809.5:c.3233_3234delinsTC	ENSP00000389119.1:p.Val1078=
ENST00000468795.1:c.148_149delinsTC
NM_000492.3:c.3323_3324delinsTC , LRG_663t1:c.3323_3324delinsTC	NP_000483.3:p.Val1108=
XM_011515751.1:c.3413_3414delinsTC	XP_011514053.1:p.Val1138=
XM_011515752.1:c.3413_3414delinsTC	XP_011514054.1:p.Val1138=
XM_011515753.1:c.3080_3081delinsTC	XP_011514055.1:p.Val1027=
XM_011515754.1:c.3080_3081delinsTC	XP_011514056.1:p.Val1027=
NM_000492.4:c.3323_3324delinsTC MANE Select	NP_000483.3:p.Val1108=