Canonical Allele Identifier: CA645509182

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117242918_117242919insA (hg19) ; chr7:g.117602864_117602865insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602864_117602865insA , CM000669.2:g.117602864_117602865insA	GRCh38
NC_000007.13:g.117242918_117242919insA , CM000669.1:g.117242918_117242919insA	GRCh37
NC_000007.12:g.117030154_117030155insA	NCBI36
NG_016465.4:g.142081_142082insA , LRG_663:g.142081_142082insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2657+1_2657+2insA	ENSP00000497673.2:n.2657+1_2657+2insA
ENST00000647978.2:c.*2371+1_*2371+2insA	ENSP00000497658.1:n.*2371+1_*2371+2insA
ENST00000649781.2:c.2474+1_2474+2insA	ENSP00000497203.1:n.2474+1_2474+2insA
ENST00000685018.2:c.2657+1_2657+2insA	ENSP00000510194.2:n.2657+1_2657+2insA
ENST00000687278.2:c.2657+1_2657+2insA	ENSP00000509593.2:n.2657+1_2657+2insA
ENST00000699585.1:c.2657+1_2657+2insA	ENSP00000514456.1:n.2657+1_2657+2insA
ENST00000699598.1:c.2657+1_2657+2insA	ENSP00000514467.1:n.2657+1_2657+2insA
ENST00000699599.1:c.2657+1_2657+2insA	ENSP00000514468.1:n.2657+1_2657+2insA
ENST00000699600.1:c.2657+1_2657+2insA	ENSP00000514469.1:n.2657+1_2657+2insA
ENST00000699601.1:c.*957+1_*957+2insA	ENSP00000514470.1:n.*957+1_*957+2insA
ENST00000699602.1:c.2657+1_2657+2insA	ENSP00000514471.1:n.2657+1_2657+2insA
ENST00000699604.1:c.*2481+1_*2481+2insA	ENSP00000514472.1:n.*2481+1_*2481+2insA
ENST00000699605.1:c.2231+1_2231+2insA	ENSP00000514473.1:n.2231+1_2231+2insA
ENST00000687278.1:c.248+1_248+2insA	ENSP00000509593.1:n.248+1_248+2insA
ENST00000003084.11:c.2657+1_2657+2insA MANE Select	ENSP00000003084.6:n.2657+1_2657+2insA
ENST00000647720.1:c.307+1_307+2insA
ENST00000648260.1:c.1439+1_1439+2insA	ENSP00000497957.1:n.1439+1_1439+2insA
ENST00000649406.1:c.2474+1_2474+2insA	ENSP00000497965.1:n.2474+1_2474+2insA
ENST00000649781.1:c.2474+1_2474+2insA	ENSP00000497203.1:n.2474+1_2474+2insA
ENST00000003084.10:c.2657+1_2657+2insA	ENSP00000003084.6:n.2657+1_2657+2insA
ENST00000426809.5:c.2567+1_2567+2insA	ENSP00000389119.1:n.2567+1_2567+2insA
NM_000492.3:c.2657+1_2657+2insA , LRG_663t1:c.2657+1_2657+2insA	NP_000483.3:n.2657+1_2657+2insA
XM_011515751.1:c.2747+1_2747+2insA	XP_011514053.1:n.2747+1_2747+2insA
XM_011515752.1:c.2747+1_2747+2insA	XP_011514054.1:n.2747+1_2747+2insA
XM_011515753.1:c.2414+1_2414+2insA	XP_011514055.1:n.2414+1_2414+2insA
XM_011515754.1:c.2414+1_2414+2insA	XP_011514056.1:n.2414+1_2414+2insA
NM_000492.4:c.2657+1_2657+2insA MANE Select	NP_000483.3:n.2657+1_2657+2insA