Canonical Allele Identifier: CA326630

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53357
• ClinVar RCV Id: RCV000577465
• dbSNP Id: rs397508281
• MyVariant Identifiers: chr7:g.117230440_117230441del (hg19) ; chr7:g.117590386_117590387del (hg38)
• PubMed: PMID:10980555

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590387_117590388del , CM000669.2:g.117590387_117590388del	GRCh38
NC_000007.13:g.117230441_117230442del , CM000669.1:g.117230441_117230442del	GRCh37
NC_000007.12:g.117017677_117017678del	NCBI36
NG_016465.4:g.129604_129605del , LRG_663:g.129604_129605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1714_1715del	ENSP00000497673.2:p.Asp572LeufsTer16
ENST00000647978.2:c.*1428_*1429del	ENSP00000497658.1:n.*1428_*1429del
ENST00000649781.2:c.1531_1532del	ENSP00000497203.1:p.Asp511LeufsTer16
ENST00000685018.2:c.1714_1715del	ENSP00000510194.2:p.Asp572LeufsTer16
ENST00000687278.2:c.1714_1715del	ENSP00000509593.2:p.Asp572LeufsTer16
ENST00000699585.1:c.1714_1715del	ENSP00000514456.1:p.Asp572LeufsTer16
ENST00000699598.1:c.1714_1715del	ENSP00000514467.1:p.Asp572LeufsTer16
ENST00000699599.1:c.1714_1715del	ENSP00000514468.1:p.Asp572LeufsTer16
ENST00000699600.1:c.1714_1715del	ENSP00000514469.1:p.Asp572LeufsTer16
ENST00000699601.1:c.*14_*15del	ENSP00000514470.1:n.*14_*15del
ENST00000699602.1:c.1714_1715del	ENSP00000514471.1:p.Asp572LeufsTer16
ENST00000699604.1:c.*1538_*1539del	ENSP00000514472.1:n.*1538_*1539del
ENST00000699605.1:c.1288_1289del	ENSP00000514473.1:p.Asp430LeufsTer16
ENST00000003084.11:c.1714_1715del MANE Select	ENSP00000003084.6:p.Asp572LeufsTer16
ENST00000647978.1:c.*1428_*1429del	ENSP00000497658.1:n.*1428_*1429del
ENST00000648260.1:c.1402-12439_1402-12438del	ENSP00000497957.1:n.1402-12439_1402-12438del
ENST00000649406.1:c.1531_1532del	ENSP00000497965.1:p.Asp511LeufsTer16
ENST00000649781.1:c.1531_1532del	ENSP00000497203.1:p.Asp511LeufsTer16
ENST00000003084.10:c.1714_1715del	ENSP00000003084.6:p.Asp572LeufsTer16
ENST00000426809.5:c.1624_1625del	ENSP00000389119.1:p.Asp542LeufsTer16
NM_000492.3:c.1714_1715del , LRG_663t1:c.1714_1715del	NP_000483.3:p.Asp572LeufsTer16
XM_011515751.1:c.1804_1805del	XP_011514053.1:p.Asp602LeufsTer16
XM_011515752.1:c.1804_1805del	XP_011514054.1:p.Asp602LeufsTer16
XM_011515753.1:c.1471_1472del	XP_011514055.1:p.Asp491LeufsTer16
XM_011515754.1:c.1471_1472del	XP_011514056.1:p.Asp491LeufsTer16
NM_000492.4:c.1714_1715del MANE Select	NP_000483.3:p.Asp572LeufsTer16