Canonical Allele Identifier: CA2837240846

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627519_117627520del , CM000669.2:g.117627519_117627520del	GRCh38
NC_000007.13:g.117267573_117267574del , CM000669.1:g.117267573_117267574del	GRCh37
NC_000007.12:g.117054809_117054810del	NCBI36
NG_016465.4:g.166736_166737del , LRG_663:g.166736_166737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3469-3_3469-2del	ENSP00000497673.2:n.3469-3_3469-2del
ENST00000647978.2:c.*3183-3_*3183-2del	ENSP00000497658.1:n.*3183-3_*3183-2del
ENST00000649781.2:c.3286-3_3286-2del	ENSP00000497203.1:n.3286-3_3286-2del
ENST00000685018.2:c.3469-3_3469-2del	ENSP00000510194.2:n.3469-3_3469-2del
ENST00000687278.2:c.*122-3_*122-2del	ENSP00000509593.2:n.*122-3_*122-2del
ENST00000699585.1:c.3469-3_3469-2del	ENSP00000514456.1:n.3469-3_3469-2del
ENST00000699598.1:c.3469-3_3469-2del	ENSP00000514467.1:n.3469-3_3469-2del
ENST00000699599.1:c.3469-3_3469-2del	ENSP00000514468.1:n.3469-3_3469-2del
ENST00000699600.1:c.*130-3_*130-2del	ENSP00000514469.1:n.*130-3_*130-2del
ENST00000699601.1:c.*1844-3_*1844-2del	ENSP00000514470.1:n.*1844-3_*1844-2del
ENST00000699602.1:c.3463-3_3463-2del	ENSP00000514471.1:n.3463-3_3463-2del
ENST00000699604.1:c.*3293-3_*3293-2del	ENSP00000514472.1:n.*3293-3_*3293-2del
ENST00000699605.1:c.3043-3_3043-2del	ENSP00000514473.1:n.3043-3_3043-2del
ENST00000685018.1:c.217-3_217-2del	ENSP00000510194.1:n.217-3_217-2del
ENST00000687278.1:c.1256-3_1256-2del	ENSP00000509593.1:n.1256-3_1256-2del
ENST00000689011.1:c.51-3_51-2del
ENST00000003084.11:c.3469-3_3469-2del MANE Select	ENSP00000003084.6:n.3469-3_3469-2del
ENST00000647720.1:c.1119-3_1119-2del
ENST00000648260.1:c.2251-3_2251-2del	ENSP00000497957.1:n.2251-3_2251-2del
ENST00000649406.1:c.3286-3_3286-2del	ENSP00000497965.1:n.3286-3_3286-2del
ENST00000649781.1:c.3286-3_3286-2del	ENSP00000497203.1:n.3286-3_3286-2del
ENST00000003084.10:c.3469-3_3469-2del	ENSP00000003084.6:n.3469-3_3469-2del
ENST00000426809.5:c.3379-3_3379-2del	ENSP00000389119.1:n.3379-3_3379-2del
ENST00000468795.1:c.294-3_294-2del
NM_000492.3:c.3469-3_3469-2del , LRG_663t1:c.3469-3_3469-2del	NP_000483.3:n.3469-3_3469-2del
XM_011515751.1:c.3559-3_3559-2del	XP_011514053.1:n.3559-3_3559-2del
XM_011515752.1:c.3559-3_3559-2del	XP_011514054.1:n.3559-3_3559-2del
XM_011515753.1:c.3226-3_3226-2del	XP_011514055.1:n.3226-3_3226-2del
XM_011515754.1:c.3226-3_3226-2del	XP_011514056.1:n.3226-3_3226-2del
NM_000492.4:c.3469-3_3469-2del MANE Select	NP_000483.3:n.3469-3_3469-2del