Canonical Allele Identifier: CA1737334600

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117541877_117541878delinsAT , CM000669.2:g.117541877_117541878delinsAT	GRCh38
NC_000007.13:g.117181931_117181932delinsAT , CM000669.1:g.117181931_117181932delinsAT	GRCh37
NC_000007.12:g.116969167_116969168delinsAT	NCBI36
NG_016465.4:g.81094_81095delinsAT , LRG_663:g.81094_81095delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1117-139_1117-138delinsAT	ENSP00000497673.2:n.1117-139_1117-138delinsAT
ENST00000647978.2:c.*1014-139_*1014-138delinsAT	ENSP00000497658.1:n.*1014-139_*1014-138delinsAT
ENST00000649781.2:c.1117-139_1117-138delinsAT	ENSP00000497203.1:n.1117-139_1117-138delinsAT
ENST00000685018.2:c.1117-139_1117-138delinsAT	ENSP00000510194.2:n.1117-139_1117-138delinsAT
ENST00000687278.2:c.1117-139_1117-138delinsAT	ENSP00000509593.2:n.1117-139_1117-138delinsAT
ENST00000699585.1:c.1117-139_1117-138delinsAT	ENSP00000514456.1:n.1117-139_1117-138delinsAT
ENST00000699596.1:c.1117-139_1117-138delinsAT	ENSP00000514465.1:n.1117-139_1117-138delinsAT
ENST00000699597.1:c.1117-139_1117-138delinsAT	ENSP00000514466.1:n.1117-139_1117-138delinsAT
ENST00000699598.1:c.1117-139_1117-138delinsAT	ENSP00000514467.1:n.1117-139_1117-138delinsAT
ENST00000699599.1:c.1117-139_1117-138delinsAT	ENSP00000514468.1:n.1117-139_1117-138delinsAT
ENST00000699600.1:c.1117-139_1117-138delinsAT	ENSP00000514469.1:n.1117-139_1117-138delinsAT
ENST00000699601.1:c.1117-139_1117-138delinsAT	ENSP00000514470.1:n.1117-139_1117-138delinsAT
ENST00000699602.1:c.1117-139_1117-138delinsAT	ENSP00000514471.1:n.1117-139_1117-138delinsAT
ENST00000699604.1:c.*941-139_*941-138delinsAT	ENSP00000514472.1:n.*941-139_*941-138delinsAT
ENST00000699605.1:c.874-139_874-138delinsAT	ENSP00000514473.1:n.874-139_874-138delinsAT
ENST00000003084.11:c.1117-139_1117-138delinsAT MANE Select	ENSP00000003084.6:n.1117-139_1117-138delinsAT
ENST00000647978.1:c.*1014-139_*1014-138delinsAT	ENSP00000497658.1:n.*1014-139_*1014-138delinsAT
ENST00000648260.1:c.1117-139_1117-138delinsAT	ENSP00000497957.1:n.1117-139_1117-138delinsAT
ENST00000649406.1:c.1117-139_1117-138delinsAT	ENSP00000497965.1:n.1117-139_1117-138delinsAT
ENST00000649781.1:c.1117-139_1117-138delinsAT	ENSP00000497203.1:n.1117-139_1117-138delinsAT
ENST00000673785.1:c.874-139_874-138delinsAT	ENSP00000501235.1:n.874-139_874-138delinsAT
ENST00000003084.10:c.1117-139_1117-138delinsAT	ENSP00000003084.6:n.1117-139_1117-138delinsAT
ENST00000426809.5:c.1027-139_1027-138delinsAT	ENSP00000389119.1:n.1027-139_1027-138delinsAT
NM_000492.3:c.1117-139_1117-138delinsAT , LRG_663t1:c.1117-139_1117-138delinsAT	NP_000483.3:n.1117-139_1117-138delinsAT
XM_011515751.1:c.1207-139_1207-138delinsAT	XP_011514053.1:n.1207-139_1207-138delinsAT
XM_011515752.1:c.1207-139_1207-138delinsAT	XP_011514054.1:n.1207-139_1207-138delinsAT
XM_011515753.1:c.874-139_874-138delinsAT	XP_011514055.1:n.874-139_874-138delinsAT
XM_011515754.1:c.874-139_874-138delinsAT	XP_011514056.1:n.874-139_874-138delinsAT
NM_000492.4:c.1117-139_1117-138delinsAT MANE Select	NP_000483.3:n.1117-139_1117-138delinsAT