Canonical Allele Identifier: CA368987623

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117603772del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603772del , CM000669.2:g.117603772del	GRCh38
NC_000007.13:g.117243826del , CM000669.1:g.117243826del	GRCh37
NC_000007.12:g.117031062del	NCBI36
NG_016465.4:g.142989del , LRG_663:g.142989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2898del	ENSP00000497673.2:p.Leu967Ter
ENST00000647978.2:c.*2612del	ENSP00000497658.1:n.*2612del
ENST00000649781.2:c.2715del	ENSP00000497203.1:p.Leu906Ter
ENST00000685018.2:c.2898del	ENSP00000510194.2:p.Leu967Ter
ENST00000687278.2:c.2898del	ENSP00000509593.2:p.Leu967Ter
ENST00000699585.1:c.2898del	ENSP00000514456.1:p.Leu967Ter
ENST00000699598.1:c.2898del	ENSP00000514467.1:p.Leu967Ter
ENST00000699599.1:c.2898del	ENSP00000514468.1:p.Leu967Ter
ENST00000699600.1:c.2898del	ENSP00000514469.1:p.Leu967Ter
ENST00000699601.1:c.*1198del	ENSP00000514470.1:n.*1198del
ENST00000699602.1:c.2898del	ENSP00000514471.1:p.Leu967Ter
ENST00000699604.1:c.*2722del	ENSP00000514472.1:n.*2722del
ENST00000699605.1:c.2472del	ENSP00000514473.1:p.Leu825Ter
ENST00000687278.1:c.489del	ENSP00000509593.1:p.Leu164Ter
ENST00000003084.11:c.2898del MANE Select	ENSP00000003084.6:p.Leu967Ter
ENST00000647720.1:c.548del
ENST00000648260.1:c.1680del	ENSP00000497957.1:p.Leu561Ter
ENST00000649406.1:c.2715del	ENSP00000497965.1:p.Leu906Ter
ENST00000649781.1:c.2715del	ENSP00000497203.1:p.Leu906Ter
ENST00000003084.10:c.2898del	ENSP00000003084.6:p.Leu967Ter
ENST00000426809.5:c.2808del	ENSP00000389119.1:p.Leu937Ter
NM_000492.3:c.2898del , LRG_663t1:c.2898del	NP_000483.3:p.Leu967Ter
XM_011515751.1:c.2988del	XP_011514053.1:p.Leu997Ter
XM_011515752.1:c.2988del	XP_011514054.1:p.Leu997Ter
XM_011515753.1:c.2655del	XP_011514055.1:p.Leu886Ter
XM_011515754.1:c.2655del	XP_011514056.1:p.Leu886Ter
NM_000492.4:c.2898del MANE Select	NP_000483.3:p.Leu967Ter