Canonical Allele Identifier: CA1737398593

Gene: CFTR

Linked Data

• dbSNP Id: rs1792669152

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627509_117627511del , CM000669.2:g.117627509_117627511del	GRCh38
NC_000007.13:g.117267563_117267565del , CM000669.1:g.117267563_117267565del	GRCh37
NC_000007.12:g.117054799_117054801del	NCBI36
NG_016465.4:g.166726_166728del , LRG_663:g.166726_166728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3469-13_3469-11del	ENSP00000497673.2:n.3469-13_3469-11del
ENST00000647978.2:c.*3183-13_*3183-11del	ENSP00000497658.1:n.*3183-13_*3183-11del
ENST00000649781.2:c.3286-13_3286-11del	ENSP00000497203.1:n.3286-13_3286-11del
ENST00000685018.2:c.3469-13_3469-11del	ENSP00000510194.2:n.3469-13_3469-11del
ENST00000687278.2:c.*122-13_*122-11del	ENSP00000509593.2:n.*122-13_*122-11del
ENST00000699585.1:c.3469-13_3469-11del	ENSP00000514456.1:n.3469-13_3469-11del
ENST00000699598.1:c.3469-13_3469-11del	ENSP00000514467.1:n.3469-13_3469-11del
ENST00000699599.1:c.3469-13_3469-11del	ENSP00000514468.1:n.3469-13_3469-11del
ENST00000699600.1:c.*130-13_*130-11del	ENSP00000514469.1:n.*130-13_*130-11del
ENST00000699601.1:c.*1844-13_*1844-11del	ENSP00000514470.1:n.*1844-13_*1844-11del
ENST00000699602.1:c.3463-13_3463-11del	ENSP00000514471.1:n.3463-13_3463-11del
ENST00000699604.1:c.*3293-13_*3293-11del	ENSP00000514472.1:n.*3293-13_*3293-11del
ENST00000699605.1:c.3043-13_3043-11del	ENSP00000514473.1:n.3043-13_3043-11del
ENST00000685018.1:c.217-13_217-11del	ENSP00000510194.1:n.217-13_217-11del
ENST00000687278.1:c.1256-13_1256-11del	ENSP00000509593.1:n.1256-13_1256-11del
ENST00000689011.1:c.51-13_51-11del
ENST00000003084.11:c.3469-13_3469-11del MANE Select	ENSP00000003084.6:n.3469-13_3469-11del
ENST00000647720.1:c.1119-13_1119-11del
ENST00000648260.1:c.2251-13_2251-11del	ENSP00000497957.1:n.2251-13_2251-11del
ENST00000649406.1:c.3286-13_3286-11del	ENSP00000497965.1:n.3286-13_3286-11del
ENST00000649781.1:c.3286-13_3286-11del	ENSP00000497203.1:n.3286-13_3286-11del
ENST00000003084.10:c.3469-13_3469-11del	ENSP00000003084.6:n.3469-13_3469-11del
ENST00000426809.5:c.3379-13_3379-11del	ENSP00000389119.1:n.3379-13_3379-11del
ENST00000468795.1:c.294-13_294-11del
NM_000492.3:c.3469-13_3469-11del , LRG_663t1:c.3469-13_3469-11del	NP_000483.3:n.3469-13_3469-11del
XM_011515751.1:c.3559-13_3559-11del	XP_011514053.1:n.3559-13_3559-11del
XM_011515752.1:c.3559-13_3559-11del	XP_011514054.1:n.3559-13_3559-11del
XM_011515753.1:c.3226-13_3226-11del	XP_011514055.1:n.3226-13_3226-11del
XM_011515754.1:c.3226-13_3226-11del	XP_011514056.1:n.3226-13_3226-11del
NM_000492.4:c.3469-13_3469-11del MANE Select	NP_000483.3:n.3469-13_3469-11del