Canonical Allele Identifier: CA913111880

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232647_117232650del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592593_117592596del , CM000669.2:g.117592593_117592596del	GRCh38
NC_000007.13:g.117232647_117232650del , CM000669.1:g.117232647_117232650del	GRCh37
NC_000007.12:g.117019883_117019886del	NCBI36
NG_016465.4:g.131810_131813del , LRG_663:g.131810_131813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2426_2429del	ENSP00000497673.2:p.Ser809Ter
ENST00000647978.2:c.*2140_*2143del	ENSP00000497658.1:n.*2140_*2143del
ENST00000649781.2:c.2243_2246del	ENSP00000497203.1:p.Ser748Ter
ENST00000685018.2:c.2426_2429del	ENSP00000510194.2:p.Ser809Ter
ENST00000687278.2:c.2426_2429del	ENSP00000509593.2:p.Ser809Ter
ENST00000699585.1:c.2426_2429del	ENSP00000514456.1:p.Ser809Ter
ENST00000699598.1:c.2426_2429del	ENSP00000514467.1:p.Ser809Ter
ENST00000699599.1:c.2426_2429del	ENSP00000514468.1:p.Ser809Ter
ENST00000699600.1:c.2426_2429del	ENSP00000514469.1:p.Ser809Ter
ENST00000699601.1:c.*726_*729del	ENSP00000514470.1:n.*726_*729del
ENST00000699602.1:c.2426_2429del	ENSP00000514471.1:p.Ser809Ter
ENST00000699604.1:c.*2250_*2253del	ENSP00000514472.1:n.*2250_*2253del
ENST00000699605.1:c.2000_2003del	ENSP00000514473.1:p.Ser667Ter
ENST00000687278.1:c.17_20del	ENSP00000509593.1:p.Ser6Ter
ENST00000003084.11:c.2426_2429del MANE Select	ENSP00000003084.6:p.Ser809Ter
ENST00000647720.1:c.76_79del
ENST00000647978.1:c.*2140_*2143del	ENSP00000497658.1:n.*2140_*2143del
ENST00000648260.1:c.1402-10233_1402-10230del	ENSP00000497957.1:n.1402-10233_1402-10230del
ENST00000649406.1:c.2243_2246del	ENSP00000497965.1:p.Ser748Ter
ENST00000649781.1:c.2243_2246del	ENSP00000497203.1:p.Ser748Ter
ENST00000003084.10:c.2426_2429del	ENSP00000003084.6:p.Ser809Ter
ENST00000426809.5:c.2336_2339del	ENSP00000389119.1:p.Ser779Ter
NM_000492.3:c.2426_2429del , LRG_663t1:c.2426_2429del	NP_000483.3:p.Ser809Ter
XM_011515751.1:c.2516_2519del	XP_011514053.1:p.Ser839Ter
XM_011515752.1:c.2516_2519del	XP_011514054.1:p.Ser839Ter
XM_011515753.1:c.2183_2186del	XP_011514055.1:p.Ser728Ter
XM_011515754.1:c.2183_2186del	XP_011514056.1:p.Ser728Ter
NM_000492.4:c.2426_2429del MANE Select	NP_000483.3:p.Ser809Ter