Canonical Allele Identifier: CA1737331694

Gene: CFTR

Linked Data

• dbSNP Id: rs1799021615

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540033_117540035del , CM000669.2:g.117540033_117540035del	GRCh38
NC_000007.13:g.117180087_117180089del , CM000669.1:g.117180087_117180089del	GRCh37
NC_000007.12:g.116967323_116967325del	NCBI36
NG_016465.4:g.79250_79252del , LRG_663:g.79250_79252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.870-67_870-65del	ENSP00000497673.2:n.870-67_870-65del
ENST00000647978.2:c.*767-67_*767-65del	ENSP00000497658.1:n.*767-67_*767-65del
ENST00000649781.2:c.870-67_870-65del	ENSP00000497203.1:n.870-67_870-65del
ENST00000685018.2:c.870-67_870-65del	ENSP00000510194.2:n.870-67_870-65del
ENST00000687278.2:c.870-67_870-65del	ENSP00000509593.2:n.870-67_870-65del
ENST00000699585.1:c.870-67_870-65del	ENSP00000514456.1:n.870-67_870-65del
ENST00000699596.1:c.870-67_870-65del	ENSP00000514465.1:n.870-67_870-65del
ENST00000699597.1:c.870-67_870-65del	ENSP00000514466.1:n.870-67_870-65del
ENST00000699598.1:c.870-67_870-65del	ENSP00000514467.1:n.870-67_870-65del
ENST00000699599.1:c.870-67_870-65del	ENSP00000514468.1:n.870-67_870-65del
ENST00000699600.1:c.870-67_870-65del	ENSP00000514469.1:n.870-67_870-65del
ENST00000699601.1:c.870-67_870-65del	ENSP00000514470.1:n.870-67_870-65del
ENST00000699602.1:c.870-67_870-65del	ENSP00000514471.1:n.870-67_870-65del
ENST00000699604.1:c.*694-67_*694-65del	ENSP00000514472.1:n.*694-67_*694-65del
ENST00000699605.1:c.627-67_627-65del	ENSP00000514473.1:n.627-67_627-65del
ENST00000003084.11:c.870-67_870-65del MANE Select	ENSP00000003084.6:n.870-67_870-65del
ENST00000647978.1:c.*767-67_*767-65del	ENSP00000497658.1:n.*767-67_*767-65del
ENST00000648260.1:c.870-67_870-65del	ENSP00000497957.1:n.870-67_870-65del
ENST00000649406.1:c.870-67_870-65del	ENSP00000497965.1:n.870-67_870-65del
ENST00000649781.1:c.870-67_870-65del	ENSP00000497203.1:n.870-67_870-65del
ENST00000673785.1:c.627-67_627-65del	ENSP00000501235.1:n.627-67_627-65del
ENST00000003084.10:c.870-67_870-65del	ENSP00000003084.6:n.870-67_870-65del
ENST00000426809.5:c.780-67_780-65del	ENSP00000389119.1:n.780-67_780-65del
NM_000492.3:c.870-67_870-65del , LRG_663t1:c.870-67_870-65del	NP_000483.3:n.870-67_870-65del
XM_011515751.1:c.960-67_960-65del	XP_011514053.1:n.960-67_960-65del
XM_011515752.1:c.960-67_960-65del	XP_011514054.1:n.960-67_960-65del
XM_011515753.1:c.627-67_627-65del	XP_011514055.1:n.627-67_627-65del
XM_011515754.1:c.627-67_627-65del	XP_011514056.1:n.627-67_627-65del
NM_000492.4:c.870-67_870-65del MANE Select	NP_000483.3:n.870-67_870-65del