Canonical Allele Identifier: CA918111811

Gene: CFTR CFTR-AS1

Linked Data

• dbSNP Id: rs1562898288
• gnomAD v4: 7-117559438-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559443_117559445del , CM000669.2:g.117559443_117559445del	GRCh38
NC_000007.13:g.117199497_117199499del , CM000669.1:g.117199497_117199499del	GRCh37
NC_000007.12:g.116986733_116986735del	NCBI36
NG_016465.4:g.98660_98662del , LRG_663:g.98660_98662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1393-21_1393-19del (CFTR)	ENSP00000497673.2:n.1393-21_1393-19del
ENST00000647978.2:c.*1107-21_*1107-19del (CFTR)	ENSP00000497658.1:n.*1107-21_*1107-19del
ENST00000649781.2:c.1210-21_1210-19del (CFTR)	ENSP00000497203.1:n.1210-21_1210-19del
ENST00000685018.2:c.1393-21_1393-19del (CFTR)	ENSP00000510194.2:n.1393-21_1393-19del
ENST00000687278.2:c.1393-21_1393-19del (CFTR)	ENSP00000509593.2:n.1393-21_1393-19del
ENST00000699585.1:c.1393-21_1393-19del (CFTR)	ENSP00000514456.1:n.1393-21_1393-19del
ENST00000699596.1:c.1393-21_1393-19del (CFTR)	ENSP00000514465.1:n.1393-21_1393-19del
ENST00000699597.1:c.1388-21_1388-19del (CFTR)	ENSP00000514466.1:n.1388-21_1388-19del
ENST00000699598.1:c.1393-21_1393-19del (CFTR)	ENSP00000514467.1:n.1393-21_1393-19del
ENST00000699599.1:c.1393-21_1393-19del (CFTR)	ENSP00000514468.1:n.1393-21_1393-19del
ENST00000699600.1:c.1393-21_1393-19del (CFTR)	ENSP00000514469.1:n.1393-21_1393-19del
ENST00000699601.1:c.1393-21_1393-19del (CFTR)	ENSP00000514470.1:n.1393-21_1393-19del
ENST00000699602.1:c.1393-21_1393-19del (CFTR)	ENSP00000514471.1:n.1393-21_1393-19del
ENST00000699604.1:c.*1217-21_*1217-19del (CFTR)	ENSP00000514472.1:n.*1217-21_*1217-19del
ENST00000699605.1:c.967-21_967-19del (CFTR)	ENSP00000514473.1:n.967-21_967-19del
ENST00000003084.11:c.1393-21_1393-19del (CFTR) MANE Select	ENSP00000003084.6:n.1393-21_1393-19del
ENST00000647978.1:c.*1107-21_*1107-19del (CFTR)	ENSP00000497658.1:n.*1107-21_*1107-19del
ENST00000648260.1:c.1210-21_1210-19del (CFTR)	ENSP00000497957.1:n.1210-21_1210-19del
ENST00000649406.1:c.1210-21_1210-19del (CFTR)	ENSP00000497965.1:n.1210-21_1210-19del
ENST00000649781.1:c.1210-21_1210-19del (CFTR)	ENSP00000497203.1:n.1210-21_1210-19del
ENST00000003084.10:c.1393-21_1393-19del (CFTR)	ENSP00000003084.6:n.1393-21_1393-19del
ENST00000426809.5:c.1303-21_1303-19del (CFTR)	ENSP00000389119.1:n.1303-21_1303-19del
NM_000492.3:c.1393-21_1393-19del , LRG_663t1:c.1393-21_1393-19del (CFTR)	NP_000483.3:n.1393-21_1393-19del
XM_011515751.1:c.1483-21_1483-19del (CFTR)	XP_011514053.1:n.1483-21_1483-19del
XM_011515752.1:c.1483-21_1483-19del (CFTR)	XP_011514054.1:n.1483-21_1483-19del
XM_011515753.1:c.1150-21_1150-19del (CFTR)	XP_011514055.1:n.1150-21_1150-19del
XM_011515754.1:c.1150-21_1150-19del (CFTR)	XP_011514056.1:n.1150-21_1150-19del
NR_149084.1:n.221+1292_221+1294del (CFTR-AS1)
NM_000492.4:c.1393-21_1393-19del (CFTR) MANE Select	NP_000483.3:n.1393-21_1393-19del