Canonical Allele Identifier: CA2695208328

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559591_117559592insA , CM000669.2:g.117559591_117559592insA	GRCh38
NC_000007.13:g.117199645_117199646insA , CM000669.1:g.117199645_117199646insA	GRCh37
NC_000007.12:g.116986881_116986882insA	NCBI36
NG_016465.4:g.98808_98809insA , LRG_663:g.98808_98809insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1520_1521insA (CFTR)	ENSP00000497673.2:p.Phe508LeufsTer6
ENST00000647978.2:c.*1234_*1235insA (CFTR)	ENSP00000497658.1:n.*1234_*1235insA
ENST00000649781.2:c.1337_1338insA (CFTR)	ENSP00000497203.1:p.Phe447LeufsTer6
ENST00000685018.2:c.1520_1521insA (CFTR)	ENSP00000510194.2:p.Phe508LeufsTer6
ENST00000687278.2:c.1520_1521insA (CFTR)	ENSP00000509593.2:p.Phe508LeufsTer6
ENST00000699585.1:c.1520_1521insA (CFTR)	ENSP00000514456.1:p.Phe508LeufsTer6
ENST00000699596.1:c.1520_1521insA (CFTR)	ENSP00000514465.1:p.Phe508LeufsTer6
ENST00000699597.1:c.*78_*79insA (CFTR)	ENSP00000514466.1:n.*78_*79insA
ENST00000699598.1:c.1520_1521insA (CFTR)	ENSP00000514467.1:p.Phe508LeufsTer6
ENST00000699599.1:c.1520_1521insA (CFTR)	ENSP00000514468.1:p.Phe508LeufsTer6
ENST00000699600.1:c.1520_1521insA (CFTR)	ENSP00000514469.1:p.Phe508LeufsTer6
ENST00000699601.1:c.1520_1521insA (CFTR)	ENSP00000514470.1:p.Phe508LeufsTer6
ENST00000699602.1:c.1520_1521insA (CFTR)	ENSP00000514471.1:p.Phe508LeufsTer6
ENST00000699604.1:c.*1344_*1345insA (CFTR)	ENSP00000514472.1:n.*1344_*1345insA
ENST00000699605.1:c.1094_1095insA (CFTR)	ENSP00000514473.1:p.Phe366LeufsTer6
ENST00000003084.11:c.1520_1521insA (CFTR) MANE Select	ENSP00000003084.6:p.Phe508LeufsTer6
ENST00000647978.1:c.*1234_*1235insA (CFTR)	ENSP00000497658.1:n.*1234_*1235insA
ENST00000648260.1:c.1337_1338insA (CFTR)	ENSP00000497957.1:p.Phe447LeufsTer6
ENST00000649406.1:c.1337_1338insA (CFTR)	ENSP00000497965.1:p.Phe447LeufsTer6
ENST00000649781.1:c.1337_1338insA (CFTR)	ENSP00000497203.1:p.Phe447LeufsTer6
ENST00000003084.10:c.1520_1521insA (CFTR)	ENSP00000003084.6:p.Phe508LeufsTer6
ENST00000426809.5:c.1430_1431insA (CFTR)	ENSP00000389119.1:p.Phe478LeufsTer6
NM_000492.3:c.1520_1521insA , LRG_663t1:c.1520_1521insA (CFTR)	NP_000483.3:p.Phe508LeufsTer6
XM_011515751.1:c.1610_1611insA (CFTR)	XP_011514053.1:p.Phe538LeufsTer6
XM_011515752.1:c.1610_1611insA (CFTR)	XP_011514054.1:p.Phe538LeufsTer6
XM_011515753.1:c.1277_1278insA (CFTR)	XP_011514055.1:p.Phe427LeufsTer6
XM_011515754.1:c.1277_1278insA (CFTR)	XP_011514056.1:p.Phe427LeufsTer6
NR_149084.1:n.221+1141_221+1142insT (CFTR-AS1)
NM_000492.4:c.1520_1521insA (CFTR) MANE Select	NP_000483.3:p.Phe508LeufsTer6