Canonical Allele Identifier: CA327026

Gene: CFTR

Linked Data

• dbSNP Id: rs397508487
• MyVariant Identifiers: chr7:g.117250625_117250626del (hg19) ; chr7:g.117610571_117610572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610572_117610573del , CM000669.2:g.117610572_117610573del	GRCh38
NC_000007.13:g.117250626_117250627del , CM000669.1:g.117250626_117250627del	GRCh37
NC_000007.12:g.117037862_117037863del	NCBI36
NG_016465.4:g.149789_149790del , LRG_663:g.149789_149790del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3042_3043del	ENSP00000497673.2:p.Ile1015LeufsTer?
ENST00000647978.2:c.*2756_*2757del	ENSP00000497658.1:n.*2756_*2757del
ENST00000649781.2:c.2859_2860del	ENSP00000497203.1:p.Ile954LeufsTer?
ENST00000685018.2:c.3042_3043del	ENSP00000510194.2:p.Ile1015LeufsTer?
ENST00000687278.2:c.3042_3043del	ENSP00000509593.2:p.Ile1015LeufsTer?
ENST00000699585.1:c.3042_3043del	ENSP00000514456.1:p.Ile1015LeufsTer?
ENST00000699598.1:c.3042_3043del	ENSP00000514467.1:p.Ile1015LeufsTer?
ENST00000699599.1:c.3042_3043del	ENSP00000514468.1:p.Ile1015LeufsTer?
ENST00000699600.1:c.3042_3043del	ENSP00000514469.1:p.Ile1015LeufsTer?
ENST00000699601.1:c.*1342_*1343del	ENSP00000514470.1:n.*1342_*1343del
ENST00000699602.1:c.3042_3043del	ENSP00000514471.1:p.Ile1015LeufsTer?
ENST00000699604.1:c.*2866_*2867del	ENSP00000514472.1:n.*2866_*2867del
ENST00000699605.1:c.2616_2617del	ENSP00000514473.1:p.Ile873LeufsTer?
ENST00000687278.1:c.633_634del	ENSP00000509593.1:p.Ile212LeufsTer?
ENST00000003084.11:c.3042_3043del MANE Select	ENSP00000003084.6:p.Ile1015LeufsTer?
ENST00000647720.1:c.692_693del
ENST00000648260.1:c.1824_1825del	ENSP00000497957.1:p.Ile609LeufsTer?
ENST00000649406.1:c.2859_2860del	ENSP00000497965.1:p.Ile954LeufsTer?
ENST00000649781.1:c.2859_2860del	ENSP00000497203.1:p.Ile954LeufsTer?
ENST00000003084.10:c.3042_3043del	ENSP00000003084.6:p.Ile1015LeufsTer?
ENST00000426809.5:c.2952_2953del	ENSP00000389119.1:p.Ile985LeufsTer?
NM_000492.3:c.3042_3043del , LRG_663t1:c.3042_3043del	NP_000483.3:p.Ile1015LeufsTer?
XM_011515751.1:c.3132_3133del	XP_011514053.1:p.Ile1045LeufsTer?
XM_011515752.1:c.3132_3133del	XP_011514054.1:p.Ile1045LeufsTer?
XM_011515753.1:c.2799_2800del	XP_011514055.1:p.Ile934LeufsTer?
XM_011515754.1:c.2799_2800del	XP_011514056.1:p.Ile934LeufsTer?
NM_000492.4:c.3042_3043del MANE Select	NP_000483.3:p.Ile1015LeufsTer?