Canonical Allele Identifier: CA2579000018

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559610_117559612del , CM000669.2:g.117559610_117559612del	GRCh38
NC_000007.13:g.117199664_117199666del , CM000669.1:g.117199664_117199666del	GRCh37
NC_000007.12:g.116986900_116986902del	NCBI36
NG_016465.4:g.98827_98829del , LRG_663:g.98827_98829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1539_1541del (CFTR)	ENSP00000497673.2:p.Asp513del
ENST00000647978.2:c.*1253_*1255del (CFTR)	ENSP00000497658.1:n.*1253_*1255del
ENST00000649781.2:c.1356_1358del (CFTR)	ENSP00000497203.1:p.Asp452del
ENST00000685018.2:c.1539_1541del (CFTR)	ENSP00000510194.2:p.Asp513del
ENST00000687278.2:c.1539_1541del (CFTR)	ENSP00000509593.2:p.Asp513del
ENST00000699585.1:c.1539_1541del (CFTR)	ENSP00000514456.1:p.Asp513del
ENST00000699596.1:c.1539_1541del (CFTR)	ENSP00000514465.1:p.Asp513del
ENST00000699597.1:c.*97_*99del (CFTR)	ENSP00000514466.1:n.*97_*99del
ENST00000699598.1:c.1539_1541del (CFTR)	ENSP00000514467.1:p.Asp513del
ENST00000699599.1:c.1539_1541del (CFTR)	ENSP00000514468.1:p.Asp513del
ENST00000699600.1:c.1539_1541del (CFTR)	ENSP00000514469.1:p.Asp513del
ENST00000699601.1:c.1539_1541del (CFTR)	ENSP00000514470.1:p.Asp513del
ENST00000699602.1:c.1539_1541del (CFTR)	ENSP00000514471.1:p.Asp513del
ENST00000699604.1:c.*1363_*1365del (CFTR)	ENSP00000514472.1:n.*1363_*1365del
ENST00000699605.1:c.1113_1115del (CFTR)	ENSP00000514473.1:p.Asp371del
ENST00000003084.11:c.1539_1541del (CFTR) MANE Select	ENSP00000003084.6:p.Asp513del
ENST00000647978.1:c.*1253_*1255del (CFTR)	ENSP00000497658.1:n.*1253_*1255del
ENST00000648260.1:c.1356_1358del (CFTR)	ENSP00000497957.1:p.Asp452del
ENST00000649406.1:c.1356_1358del (CFTR)	ENSP00000497965.1:p.Asp452del
ENST00000649781.1:c.1356_1358del (CFTR)	ENSP00000497203.1:p.Asp452del
ENST00000003084.10:c.1539_1541del (CFTR)	ENSP00000003084.6:p.Asp513del
ENST00000426809.5:c.1449_1451del (CFTR)	ENSP00000389119.1:p.Asp483del
NM_000492.3:c.1539_1541del , LRG_663t1:c.1539_1541del (CFTR)	NP_000483.3:p.Asp513del
XM_011515751.1:c.1629_1631del (CFTR)	XP_011514053.1:p.Asp543del
XM_011515752.1:c.1629_1631del (CFTR)	XP_011514054.1:p.Asp543del
XM_011515753.1:c.1296_1298del (CFTR)	XP_011514055.1:p.Asp432del
XM_011515754.1:c.1296_1298del (CFTR)	XP_011514056.1:p.Asp432del
NR_149084.1:n.221+1125_221+1127del (CFTR-AS1)
NM_000492.4:c.1539_1541del (CFTR) MANE Select	NP_000483.3:p.Asp513del