Canonical Allele Identifier: CA1737379482

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606687_117606689delinsTAG , CM000669.2:g.117606687_117606689delinsTAG	GRCh38
NC_000007.13:g.117246741_117246743delinsTAG , CM000669.1:g.117246741_117246743delinsTAG	GRCh37
NC_000007.12:g.117033977_117033979delinsTAG	NCBI36
NG_016465.4:g.145904_145906delinsTAG , LRG_663:g.145904_145906delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2922_2924delinsTAG	ENSP00000497673.2:p.Asn974=
ENST00000647978.2:c.*2636_*2638delinsTAG	ENSP00000497658.1:n.*2636_*2638delinsTAG
ENST00000649781.2:c.2739_2741delinsTAG	ENSP00000497203.1:p.Asn913=
ENST00000685018.2:c.2922_2924delinsTAG	ENSP00000510194.2:p.Asn974=
ENST00000687278.2:c.2922_2924delinsTAG	ENSP00000509593.2:p.Asn974=
ENST00000699585.1:c.2922_2924delinsTAG	ENSP00000514456.1:p.Asn974=
ENST00000699598.1:c.2922_2924delinsTAG	ENSP00000514467.1:p.Asn974=
ENST00000699599.1:c.2922_2924delinsTAG	ENSP00000514468.1:p.Asn974=
ENST00000699600.1:c.2922_2924delinsTAG	ENSP00000514469.1:p.Asn974=
ENST00000699601.1:c.*1222_*1224delinsTAG	ENSP00000514470.1:n.*1222_*1224delinsTAG
ENST00000699602.1:c.2922_2924delinsTAG	ENSP00000514471.1:p.Asn974=
ENST00000699604.1:c.*2746_*2748delinsTAG	ENSP00000514472.1:n.*2746_*2748delinsTAG
ENST00000699605.1:c.2496_2498delinsTAG	ENSP00000514473.1:p.Asn832=
ENST00000687278.1:c.513_515delinsTAG	ENSP00000509593.1:p.Asn171=
ENST00000003084.11:c.2922_2924delinsTAG MANE Select	ENSP00000003084.6:p.Asn974=
ENST00000647720.1:c.572_574delinsTAG
ENST00000648260.1:c.1704_1706delinsTAG	ENSP00000497957.1:p.Asn568=
ENST00000649406.1:c.2739_2741delinsTAG	ENSP00000497965.1:p.Asn913=
ENST00000649781.1:c.2739_2741delinsTAG	ENSP00000497203.1:p.Asn913=
ENST00000003084.10:c.2922_2924delinsTAG	ENSP00000003084.6:p.Asn974=
ENST00000426809.5:c.2832_2834delinsTAG	ENSP00000389119.1:p.Asn944=
NM_000492.3:c.2922_2924delinsTAG , LRG_663t1:c.2922_2924delinsTAG	NP_000483.3:p.Asn974=
XM_011515751.1:c.3012_3014delinsTAG	XP_011514053.1:p.Asn1004=
XM_011515752.1:c.3012_3014delinsTAG	XP_011514054.1:p.Asn1004=
XM_011515753.1:c.2679_2681delinsTAG	XP_011514055.1:p.Asn893=
XM_011515754.1:c.2679_2681delinsTAG	XP_011514056.1:p.Asn893=
NM_000492.4:c.2922_2924delinsTAG MANE Select	NP_000483.3:p.Asn974=