Canonical Allele Identifier: CA1737362152

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535322_117535323delinsGT , CM000669.2:g.117535322_117535323delinsGT	GRCh38
NC_000007.13:g.117175376_117175377delinsGT , CM000669.1:g.117175376_117175377delinsGT	GRCh37
NC_000007.12:g.116962612_116962613delinsGT	NCBI36
NG_016465.4:g.74539_74540delinsGT , LRG_663:g.74539_74540delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.654_655delinsGT	ENSP00000497673.2:p.Leu218=
ENST00000647978.2:c.*551_*552delinsGT	ENSP00000497658.1:n.*551_*552delinsGT
ENST00000649781.2:c.654_655delinsGT	ENSP00000497203.1:p.Leu218=
ENST00000685018.2:c.654_655delinsGT	ENSP00000510194.2:p.Leu218=
ENST00000687278.2:c.654_655delinsGT	ENSP00000509593.2:p.Leu218=
ENST00000699585.1:c.654_655delinsGT	ENSP00000514456.1:p.Leu218=
ENST00000699596.1:c.654_655delinsGT	ENSP00000514465.1:p.Leu218=
ENST00000699597.1:c.654_655delinsGT	ENSP00000514466.1:p.Leu218=
ENST00000699598.1:c.654_655delinsGT	ENSP00000514467.1:p.Leu218=
ENST00000699599.1:c.654_655delinsGT	ENSP00000514468.1:p.Leu218=
ENST00000699600.1:c.654_655delinsGT	ENSP00000514469.1:p.Leu218=
ENST00000699601.1:c.654_655delinsGT	ENSP00000514470.1:p.Leu218=
ENST00000699602.1:c.654_655delinsGT	ENSP00000514471.1:p.Leu218=
ENST00000699604.1:c.*478_*479delinsGT	ENSP00000514472.1:n.*478_*479delinsGT
ENST00000699605.1:c.411_412delinsGT	ENSP00000514473.1:p.Leu137=
ENST00000003084.11:c.654_655delinsGT MANE Select	ENSP00000003084.6:p.Leu218=
ENST00000647978.1:c.*551_*552delinsGT	ENSP00000497658.1:n.*551_*552delinsGT
ENST00000648260.1:c.654_655delinsGT	ENSP00000497957.1:p.Leu218=
ENST00000649406.1:c.654_655delinsGT	ENSP00000497965.1:p.Leu218=
ENST00000649781.1:c.654_655delinsGT	ENSP00000497203.1:p.Leu218=
ENST00000673785.1:c.411_412delinsGT	ENSP00000501235.1:p.Leu137=
ENST00000003084.10:c.654_655delinsGT	ENSP00000003084.6:p.Leu218=
ENST00000426809.5:c.564_565delinsGT	ENSP00000389119.1:p.Leu188=
NM_000492.3:c.654_655delinsGT , LRG_663t1:c.654_655delinsGT	NP_000483.3:p.Leu218=
XM_011515751.1:c.744_745delinsGT	XP_011514053.1:p.Leu248=
XM_011515752.1:c.744_745delinsGT	XP_011514054.1:p.Leu248=
XM_011515753.1:c.411_412delinsGT	XP_011514055.1:p.Leu137=
XM_011515754.1:c.411_412delinsGT	XP_011514056.1:p.Leu137=
NM_000492.4:c.654_655delinsGT MANE Select	NP_000483.3:p.Leu218=