Canonical Allele Identifier: CA1737370721

Gene: CFTR CFTR-AS1

Linked Data

• dbSNP Id: rs1799218294
• gnomAD v4: 7-117548870-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548874_117548875del , CM000669.2:g.117548874_117548875del	GRCh38
NC_000007.13:g.117188928_117188929del , CM000669.1:g.117188928_117188929del	GRCh37
NC_000007.12:g.116976164_116976165del	NCBI36
NG_016465.4:g.88091_88092del , LRG_663:g.88091_88092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1392+51_1392+52del (CFTR)	ENSP00000497673.2:n.1392+51_1392+52del
ENST00000647978.2:c.*1106+6766_*1106+6767del (CFTR)	ENSP00000497658.1:n.*1106+6766_*1106+6767del
ENST00000649781.2:c.1209+6766_1209+6767del (CFTR)	ENSP00000497203.1:n.1209+6766_1209+6767del
ENST00000685018.2:c.1392+51_1392+52del (CFTR)	ENSP00000510194.2:n.1392+51_1392+52del
ENST00000687278.2:c.1392+51_1392+52del (CFTR)	ENSP00000509593.2:n.1392+51_1392+52del
ENST00000699585.1:c.1392+51_1392+52del (CFTR)	ENSP00000514456.1:n.1392+51_1392+52del
ENST00000699596.1:c.1392+51_1392+52del (CFTR)	ENSP00000514465.1:n.1392+51_1392+52del
ENST00000699597.1:c.1387+56_1387+57del (CFTR)	ENSP00000514466.1:n.1387+56_1387+57del
ENST00000699598.1:c.1392+51_1392+52del (CFTR)	ENSP00000514467.1:n.1392+51_1392+52del
ENST00000699599.1:c.1392+51_1392+52del (CFTR)	ENSP00000514468.1:n.1392+51_1392+52del
ENST00000699600.1:c.1392+51_1392+52del (CFTR)	ENSP00000514469.1:n.1392+51_1392+52del
ENST00000699601.1:c.1392+51_1392+52del (CFTR)	ENSP00000514470.1:n.1392+51_1392+52del
ENST00000699602.1:c.1392+51_1392+52del (CFTR)	ENSP00000514471.1:n.1392+51_1392+52del
ENST00000699604.1:c.*1216+51_*1216+52del (CFTR)	ENSP00000514472.1:n.*1216+51_*1216+52del
ENST00000699605.1:c.966+6766_966+6767del (CFTR)	ENSP00000514473.1:n.966+6766_966+6767del
ENST00000003084.11:c.1392+51_1392+52del (CFTR) MANE Select	ENSP00000003084.6:n.1392+51_1392+52del
ENST00000647978.1:c.*1106+6766_*1106+6767del (CFTR)	ENSP00000497658.1:n.*1106+6766_*1106+6767del
ENST00000648260.1:c.1209+6766_1209+6767del (CFTR)	ENSP00000497957.1:n.1209+6766_1209+6767del
ENST00000649406.1:c.1209+6766_1209+6767del (CFTR)	ENSP00000497965.1:n.1209+6766_1209+6767del
ENST00000649781.1:c.1209+6766_1209+6767del (CFTR)	ENSP00000497203.1:n.1209+6766_1209+6767del
ENST00000003084.10:c.1392+51_1392+52del (CFTR)	ENSP00000003084.6:n.1392+51_1392+52del
ENST00000426809.5:c.1302+51_1302+52del (CFTR)	ENSP00000389119.1:n.1302+51_1302+52del
NM_000492.3:c.1392+51_1392+52del , LRG_663t1:c.1392+51_1392+52del (CFTR)	NP_000483.3:n.1392+51_1392+52del
XM_011515751.1:c.1482+51_1482+52del (CFTR)	XP_011514053.1:n.1482+51_1482+52del
XM_011515752.1:c.1482+51_1482+52del (CFTR)	XP_011514054.1:n.1482+51_1482+52del
XM_011515753.1:c.1149+51_1149+52del (CFTR)	XP_011514055.1:n.1149+51_1149+52del
XM_011515754.1:c.1149+51_1149+52del (CFTR)	XP_011514056.1:n.1149+51_1149+52del
NR_149084.1:n.222-6333_222-6332del (CFTR-AS1)
NM_000492.4:c.1392+51_1392+52del (CFTR) MANE Select	NP_000483.3:n.1392+51_1392+52del