Canonical Allele Identifier: CA1737421913

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664758_117664765delinsTCCTAAGC , CM000669.2:g.117664758_117664765delinsTCCTAAGC	GRCh38
NC_000007.13:g.117304812_117304819delinsTCCTAAGC , CM000669.1:g.117304812_117304819delinsTCCTAAGC	GRCh37
NC_000007.12:g.117092048_117092055delinsTCCTAAGC	NCBI36
NG_016465.4:g.203975_203982delinsTCCTAAGC , LRG_663:g.203975_203982delinsTCCTAAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*243_*250delinsTCCTAAGC	ENSP00000497673.2:n.*243_*250delinsTCCTAA...
ENST00000647978.2:c.*3748_*3755delinsTCCTAAGC	ENSP00000497658.1:n.*3748_*3755delinsTCCT...
ENST00000649781.2:c.3851_3858delinsTCCTAAGC	ENSP00000497203.1:p.Val1284=
ENST00000685018.2:c.*247_*254delinsTCCTAAGC	ENSP00000510194.2:n.*247_*254delinsTCCTAA...
ENST00000687278.2:c.*687_*694delinsTCCTAAGC	ENSP00000509593.2:n.*687_*694delinsTCCTAA...
ENST00000699585.1:c.*243_*250delinsTCCTAAGC	ENSP00000514456.1:n.*243_*250delinsTCCTAA...
ENST00000699598.1:c.4034_4041delinsTCCTAAGC	ENSP00000514467.1:p.Val1345=
ENST00000699599.1:c.*247_*254delinsTCCTAAGC	ENSP00000514468.1:n.*247_*254delinsTCCTAA...
ENST00000699600.1:c.*695_*702delinsTCCTAAGC	ENSP00000514469.1:n.*695_*702delinsTCCTAA...
ENST00000699601.1:c.*2409_*2416delinsTCCTAAGC	ENSP00000514470.1:n.*2409_*2416delinsTCCT...
ENST00000699602.1:c.4028_4035delinsTCCTAAGC	ENSP00000514471.1:p.Val1343=
ENST00000699604.1:c.*3858_*3865delinsTCCTAAGC	ENSP00000514472.1:n.*3858_*3865delinsTCCT...
ENST00000699605.1:c.3608_3615delinsTCCTAAGC	ENSP00000514473.1:p.Val1203=
ENST00000699606.1:n.2202_2209delinsTCCTAAGC
ENST00000685018.1:c.898_905delinsTCCTAAGC	ENSP00000510194.1:n.898_905delinsTCCTAAGC...
ENST00000687278.1:c.1821_1828delinsTCCTAAGC	ENSP00000509593.1:n.1821_1828delinsTCCTAA...
ENST00000689011.1:c.616_623delinsTCCTAAGC
ENST00000003084.11:c.4034_4041delinsTCCTAAGC MANE Select	ENSP00000003084.6:p.Val1345=
ENST00000647720.1:c.1484_1491delinsTCCTAAGC
ENST00000649781.1:c.3851_3858delinsTCCTAAGC	ENSP00000497203.1:p.Val1284=
ENST00000003084.10:c.4034_4041delinsTCCTAAGC	ENSP00000003084.6:p.Val1345=
ENST00000426809.5:c.3944_3951delinsTCCTAAGC	ENSP00000389119.1:p.Val1315=
ENST00000600166.1:c.160_167delinsTCCTAAGC
NM_000492.3:c.4034_4041delinsTCCTAAGC , LRG_663t1:c.4034_4041delinsTCCTAAGC	NP_000483.3:p.Val1345=
XM_011515751.1:c.4124_4131delinsTCCTAAGC	XP_011514053.1:p.Val1375=
XM_011515752.1:c.4124_4131delinsTCCTAAGC	XP_011514054.1:p.Val1375=
XM_011515753.1:c.3791_3798delinsTCCTAAGC	XP_011514055.1:p.Val1264=
XM_011515754.1:c.3791_3798delinsTCCTAAGC	XP_011514056.1:p.Val1264=
NM_000492.4:c.4034_4041delinsTCCTAAGC MANE Select	NP_000483.3:p.Val1345=