Canonical Allele Identifier: CA2580076397

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706012
• ClinVar RCV Id: RCV002284542

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614634_117614647del , CM000669.2:g.117614634_117614647del	GRCh38
NC_000007.13:g.117254688_117254701del , CM000669.1:g.117254688_117254701del	GRCh37
NC_000007.12:g.117041924_117041937del	NCBI36
NG_016465.4:g.153851_153864del , LRG_663:g.153851_153864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3389_3402del	ENSP00000497673.2:p.Gly1130ValfsTer21
ENST00000647978.2:c.*3103_*3116del	ENSP00000497658.1:n.*3103_*3116del
ENST00000649781.2:c.3206_3219del	ENSP00000497203.1:p.Gly1069ValfsTer21
ENST00000685018.2:c.3389_3402del	ENSP00000510194.2:p.Gly1130ValfsTer21
ENST00000687278.2:c.3389_3402del	ENSP00000509593.2:p.Gly1130ValfsTer21
ENST00000699585.1:c.3389_3402del	ENSP00000514456.1:p.Gly1130ValfsTer21
ENST00000699598.1:c.3389_3402del	ENSP00000514467.1:p.Gly1130ValfsTer21
ENST00000699599.1:c.3389_3402del	ENSP00000514468.1:p.Gly1130ValfsTer21
ENST00000699600.1:c.3389_3402del	ENSP00000514469.1:p.Gly1130ValfsTer21
ENST00000699601.1:c.*1764_*1777del	ENSP00000514470.1:n.*1764_*1777del
ENST00000699602.1:c.3383_3396del	ENSP00000514471.1:p.Gly1128ValfsTer21
ENST00000699604.1:c.*3213_*3226del	ENSP00000514472.1:n.*3213_*3226del
ENST00000699605.1:c.2963_2976del	ENSP00000514473.1:p.Gly988ValfsTer21
ENST00000685018.1:c.137_150del	ENSP00000510194.1:p.Gly46ValfsTer21
ENST00000687278.1:c.980_993del	ENSP00000509593.1:p.Gly327ValfsTer21
ENST00000003084.11:c.3389_3402del MANE Select	ENSP00000003084.6:p.Gly1130ValfsTer21
ENST00000647720.1:c.1039_1052del
ENST00000648260.1:c.2171_2184del	ENSP00000497957.1:p.Gly724ValfsTer21
ENST00000649406.1:c.3206_3219del	ENSP00000497965.1:p.Gly1069ValfsTer21
ENST00000649781.1:c.3206_3219del	ENSP00000497203.1:p.Gly1069ValfsTer21
ENST00000003084.10:c.3389_3402del	ENSP00000003084.6:p.Gly1130ValfsTer21
ENST00000426809.5:c.3299_3312del	ENSP00000389119.1:p.Gly1100ValfsTer21
ENST00000468795.1:c.214_227del
NM_000492.3:c.3389_3402del , LRG_663t1:c.3389_3402del	NP_000483.3:p.Gly1130ValfsTer21
XM_011515751.1:c.3479_3492del	XP_011514053.1:p.Gly1160ValfsTer21
XM_011515752.1:c.3479_3492del	XP_011514054.1:p.Gly1160ValfsTer21
XM_011515753.1:c.3146_3159del	XP_011514055.1:p.Gly1049ValfsTer21
XM_011515754.1:c.3146_3159del	XP_011514056.1:p.Gly1049ValfsTer21
NM_000492.4:c.3389_3402del MANE Select	NP_000483.3:p.Gly1130ValfsTer21