Canonical Allele Identifier: CA1737375406

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC , CM000669.2:g.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	GRCh38
NC_000007.13:g.117243786_117243818delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC , CM000669.1:g.117243786_117243818delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	GRCh37
NC_000007.12:g.117031022_117031054delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	NCBI36
NG_016465.4:g.142949_142981delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC , LRG_663:g.142949_142981delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497673.2:p.Leu953=
ENST00000647978.2:c.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497658.1:n.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTA...
ENST00000649781.2:c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497203.1:p.Leu892=
ENST00000685018.2:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000510194.2:p.Leu953=
ENST00000687278.2:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000509593.2:p.Leu953=
ENST00000699585.1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514456.1:p.Leu953=
ENST00000699598.1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514467.1:p.Leu953=
ENST00000699599.1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514468.1:p.Leu953=
ENST00000699600.1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514469.1:p.Leu953=
ENST00000699601.1:c.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514470.1:n.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTA...
ENST00000699602.1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514471.1:p.Leu953=
ENST00000699604.1:c.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514472.1:n.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTA...
ENST00000699605.1:c.2432_2464delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000514473.1:p.Leu811=
ENST00000687278.1:c.449_481delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000509593.1:p.Leu150=
ENST00000003084.11:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC MANE Select	ENSP00000003084.6:p.Leu953=
ENST00000647720.1:c.508_540delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC
ENST00000648260.1:c.1640_1672delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497957.1:p.Leu547=
ENST00000649406.1:c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497965.1:p.Leu892=
ENST00000649781.1:c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000497203.1:p.Leu892=
ENST00000003084.10:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000003084.6:p.Leu953=
ENST00000426809.5:c.2768_2800delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	ENSP00000389119.1:p.Leu923=
NM_000492.3:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC , LRG_663t1:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	NP_000483.3:p.Leu953=
XM_011515751.1:c.2948_2980delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	XP_011514053.1:p.Leu983=
XM_011515752.1:c.2948_2980delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	XP_011514054.1:p.Leu983=
XM_011515753.1:c.2615_2647delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	XP_011514055.1:p.Leu872=
XM_011515754.1:c.2615_2647delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC	XP_011514056.1:p.Leu872=
NM_000492.4:c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC MANE Select	NP_000483.3:p.Leu953=