Canonical Allele Identifier: CA2580076490
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2443061
ClinVar RCV Id: RCV003150909

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117591251_117595608delinsCTACATTTGTACTA , CM000669.2:g.117591251_117595608delinsCTACATTTGTACTA GRCh38
NC_000007.13:g.117231305_117235662delinsCTACATTTGTACTA , CM000669.1:g.117231305_117235662delinsCTACATTTGTACTA GRCh37
NC_000007.12:g.117018541_117022898delinsCTACATTTGTACTA NCBI36
NG_016465.4:g.130468_134825delinsCTACATTTGTACTA , LRG_663:g.130468_134825delinsCTACATTTGTACTA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000647978.2:c.*1481-683_*2333+550delinsCTACATTTGTACTA
ENST00000649781.2:c.1584-683_2436+550delinsCTACATTTGTACTA
ENST00000685018.2:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000687278.2:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699585.1:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699598.1:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699599.1:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699600.1:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699601.1:c.*67-683_*919+550delinsCTACATTTGTACTA
ENST00000699602.1:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000699604.1:c.*1591-683_*2443+550delinsCTACATTTGTACTA
ENST00000699605.1:c.1341-683_2193+550delinsCTACATTTGTACTA
ENST00000003084.11:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000648260.1:c.1402-11575_1402-7218delinsCTACATTTGTACTA ENSP00000497957.1:n.1402-11575_1402-7218d...
ENST00000649406.1:c.1584-683_2436+550delinsCTACATTTGTACTA
ENST00000649781.1:c.1584-683_2436+550delinsCTACATTTGTACTA
ENST00000003084.10:c.1767-683_2619+550delinsCTACATTTGTACTA
ENST00000426809.5:c.1677-683_2529+550delinsCTACATTTGTACTA
NM_000492.3:c.1767-683_2619+550delinsCTACATTTGTACTA , LRG_663t1:c.1767-683_2619+550delinsCTACATTTGTACTA
XM_011515751.1:c.1857-683_2709+550delinsCTACATTTGTACTA
XM_011515752.1:c.1857-683_2709+550delinsCTACATTTGTACTA
XM_011515753.1:c.1524-683_2376+550delinsCTACATTTGTACTA
XM_011515754.1:c.1524-683_2376+550delinsCTACATTTGTACTA
NM_000492.4:c.1767-683_2619+550delinsCTACATTTGTACTA