Canonical Allele Identifier: CA1737391950

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614620_117614624delinsAGAAG , CM000669.2:g.117614620_117614624delinsAGAAG	GRCh38
NC_000007.13:g.117254674_117254678delinsAGAAG , CM000669.1:g.117254674_117254678delinsAGAAG	GRCh37
NC_000007.12:g.117041910_117041914delinsAGAAG	NCBI36
NG_016465.4:g.153837_153841delinsAGAAG , LRG_663:g.153837_153841delinsAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3375_3379delinsAGAAG	ENSP00000497673.2:p.Gly1125=
ENST00000647978.2:c.*3089_*3093delinsAGAAG	ENSP00000497658.1:n.*3089_*3093delinsAGAAG
ENST00000649781.2:c.3192_3196delinsAGAAG	ENSP00000497203.1:p.Gly1064=
ENST00000685018.2:c.3375_3379delinsAGAAG	ENSP00000510194.2:p.Gly1125=
ENST00000687278.2:c.3375_3379delinsAGAAG	ENSP00000509593.2:p.Gly1125=
ENST00000699585.1:c.3375_3379delinsAGAAG	ENSP00000514456.1:p.Gly1125=
ENST00000699598.1:c.3375_3379delinsAGAAG	ENSP00000514467.1:p.Gly1125=
ENST00000699599.1:c.3375_3379delinsAGAAG	ENSP00000514468.1:p.Gly1125=
ENST00000699600.1:c.3375_3379delinsAGAAG	ENSP00000514469.1:p.Gly1125=
ENST00000699601.1:c.*1750_*1754delinsAGAAG	ENSP00000514470.1:n.*1750_*1754delinsAGAAG
ENST00000699602.1:c.3369_3373delinsAGAAG	ENSP00000514471.1:p.Gly1123=
ENST00000699604.1:c.*3199_*3203delinsAGAAG	ENSP00000514472.1:n.*3199_*3203delinsAGAAG
ENST00000699605.1:c.2949_2953delinsAGAAG	ENSP00000514473.1:p.Gly983=
ENST00000685018.1:c.123_127delinsAGAAG	ENSP00000510194.1:p.Gly41=
ENST00000687278.1:c.966_970delinsAGAAG	ENSP00000509593.1:p.Gly322=
ENST00000003084.11:c.3375_3379delinsAGAAG MANE Select	ENSP00000003084.6:p.Gly1125=
ENST00000647720.1:c.1025_1029delinsAGAAG
ENST00000648260.1:c.2157_2161delinsAGAAG	ENSP00000497957.1:p.Gly719=
ENST00000649406.1:c.3192_3196delinsAGAAG	ENSP00000497965.1:p.Gly1064=
ENST00000649781.1:c.3192_3196delinsAGAAG	ENSP00000497203.1:p.Gly1064=
ENST00000003084.10:c.3375_3379delinsAGAAG	ENSP00000003084.6:p.Gly1125=
ENST00000426809.5:c.3285_3289delinsAGAAG	ENSP00000389119.1:p.Gly1095=
ENST00000468795.1:c.200_204delinsAGAAG
NM_000492.3:c.3375_3379delinsAGAAG , LRG_663t1:c.3375_3379delinsAGAAG	NP_000483.3:p.Gly1125=
XM_011515751.1:c.3465_3469delinsAGAAG	XP_011514053.1:p.Gly1155=
XM_011515752.1:c.3465_3469delinsAGAAG	XP_011514054.1:p.Gly1155=
XM_011515753.1:c.3132_3136delinsAGAAG	XP_011514055.1:p.Gly1044=
XM_011515754.1:c.3132_3136delinsAGAAG	XP_011514056.1:p.Gly1044=
NM_000492.4:c.3375_3379delinsAGAAG MANE Select	NP_000483.3:p.Gly1125=