Canonical Allele Identifier: CA1737385067

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610625_117610626delinsAT , CM000669.2:g.117610625_117610626delinsAT	GRCh38
NC_000007.13:g.117250679_117250680delinsAT , CM000669.1:g.117250679_117250680delinsAT	GRCh37
NC_000007.12:g.117037915_117037916delinsAT	NCBI36
NG_016465.4:g.149842_149843delinsAT , LRG_663:g.149842_149843delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3095_3096delinsAT	ENSP00000497673.2:p.Tyr1032=
ENST00000647978.2:c.*2809_*2810delinsAT	ENSP00000497658.1:n.*2809_*2810delinsAT
ENST00000649781.2:c.2912_2913delinsAT	ENSP00000497203.1:p.Tyr971=
ENST00000685018.2:c.3095_3096delinsAT	ENSP00000510194.2:p.Tyr1032=
ENST00000687278.2:c.3095_3096delinsAT	ENSP00000509593.2:p.Tyr1032=
ENST00000699585.1:c.3095_3096delinsAT	ENSP00000514456.1:p.Tyr1032=
ENST00000699598.1:c.3095_3096delinsAT	ENSP00000514467.1:p.Tyr1032=
ENST00000699599.1:c.3095_3096delinsAT	ENSP00000514468.1:p.Tyr1032=
ENST00000699600.1:c.3095_3096delinsAT	ENSP00000514469.1:p.Tyr1032=
ENST00000699601.1:c.*1395_*1396delinsAT	ENSP00000514470.1:n.*1395_*1396delinsAT
ENST00000699602.1:c.3095_3096delinsAT	ENSP00000514471.1:p.Tyr1032=
ENST00000699604.1:c.*2919_*2920delinsAT	ENSP00000514472.1:n.*2919_*2920delinsAT
ENST00000699605.1:c.2669_2670delinsAT	ENSP00000514473.1:p.Tyr890=
ENST00000687278.1:c.686_687delinsAT	ENSP00000509593.1:p.Tyr229=
ENST00000003084.11:c.3095_3096delinsAT MANE Select	ENSP00000003084.6:p.Tyr1032=
ENST00000647720.1:c.745_746delinsAT
ENST00000648260.1:c.1877_1878delinsAT	ENSP00000497957.1:p.Tyr626=
ENST00000649406.1:c.2912_2913delinsAT	ENSP00000497965.1:p.Tyr971=
ENST00000649781.1:c.2912_2913delinsAT	ENSP00000497203.1:p.Tyr971=
ENST00000003084.10:c.3095_3096delinsAT	ENSP00000003084.6:p.Tyr1032=
ENST00000426809.5:c.3005_3006delinsAT	ENSP00000389119.1:p.Tyr1002=
NM_000492.3:c.3095_3096delinsAT , LRG_663t1:c.3095_3096delinsAT	NP_000483.3:p.Tyr1032=
XM_011515751.1:c.3185_3186delinsAT	XP_011514053.1:p.Tyr1062=
XM_011515752.1:c.3185_3186delinsAT	XP_011514054.1:p.Tyr1062=
XM_011515753.1:c.2852_2853delinsAT	XP_011514055.1:p.Tyr951=
XM_011515754.1:c.2852_2853delinsAT	XP_011514056.1:p.Tyr951=
NM_000492.4:c.3095_3096delinsAT MANE Select	NP_000483.3:p.Tyr1032=