Canonical Allele Identifier: CA913111901

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306970_117306971del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666919_117666920del , CM000669.2:g.117666919_117666920del	GRCh38
NC_000007.13:g.117306973_117306974del , CM000669.1:g.117306973_117306974del	GRCh37
NC_000007.12:g.117094209_117094210del	NCBI36
NG_016465.4:g.206136_206137del , LRG_663:g.206136_206137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*463_*464del	ENSP00000497673.2:n.*463_*464del
ENST00000647978.2:c.*3968_*3969del	ENSP00000497658.1:n.*3968_*3969del
ENST00000649781.2:c.4071_4072del	ENSP00000497203.1:p.Asn1358GlnfsTer?
ENST00000685018.2:c.*467_*468del	ENSP00000510194.2:n.*467_*468del
ENST00000687278.2:c.*896-683_*896-682del	ENSP00000509593.2:n.*896-683_*896-682del
ENST00000699585.1:c.*723_*724del	ENSP00000514456.1:n.*723_*724del
ENST00000699598.1:c.4247_4248del	ENSP00000514467.1:p.Arg1416AsnfsTer?
ENST00000699599.1:c.*467_*468del	ENSP00000514468.1:n.*467_*468del
ENST00000699600.1:c.*904-683_*904-682del	ENSP00000514469.1:n.*904-683_*904-682del
ENST00000699601.1:c.*2629_*2630del	ENSP00000514470.1:n.*2629_*2630del
ENST00000699602.1:c.4248_4249del	ENSP00000514471.1:p.Asn1417GlnfsTer?
ENST00000699604.1:c.*4078_*4079del	ENSP00000514472.1:n.*4078_*4079del
ENST00000699605.1:c.3828_3829del	ENSP00000514473.1:p.Asn1277GlnfsTer?
ENST00000699606.1:n.3765_3766del
ENST00000685018.1:c.1118_1119del	ENSP00000510194.1:n.1118_1119del
ENST00000687278.1:c.2030-683_2030-682del	ENSP00000509593.1:n.2030-683_2030-682del
ENST00000689011.1:c.1096_1097del
ENST00000003084.11:c.4254_4255del MANE Select	ENSP00000003084.6:p.Asn1419GlnfsTer?
ENST00000647720.1:c.1704_1705del
ENST00000649781.1:c.4071_4072del	ENSP00000497203.1:p.Asn1358GlnfsTer?
ENST00000003084.10:c.4254_4255del	ENSP00000003084.6:p.Asn1419GlnfsTer?
ENST00000426809.5:c.4164_4165del	ENSP00000389119.1:p.Asn1389GlnfsTer?
ENST00000600166.1:c.368+1355_368+1356del
NM_000492.3:c.4254_4255del , LRG_663t1:c.4254_4255del	NP_000483.3:p.Asn1419GlnfsTer?
XM_011515751.1:c.4344_4345del	XP_011514053.1:p.Asn1449GlnfsTer?
XM_011515753.1:c.4011_4012del	XP_011514055.1:p.Asn1338GlnfsTer?
XM_011515754.1:c.4011_4012del	XP_011514056.1:p.Asn1338GlnfsTer?
NM_000492.4:c.4254_4255del MANE Select	NP_000483.3:p.Asn1419GlnfsTer?