Canonical Allele Identifier: CA2684616384
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479458del , CM000669.2:g.117479458del GRCh38
NC_000007.13:g.117119512del , CM000669.1:g.117119512del GRCh37
NC_000007.12:g.116906748del NCBI36
NG_016465.4:g.18675del , LRG_663:g.18675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-423-4del ENSP00000417012.1:n.-423-4del
ENST00000673785.1:c.-406+13627del ENSP00000501235.1:n.-406+13627del
ENST00000446805.1:c.-423-4del ENSP00000417012.1:n.-423-4del
ENST00000546407.1:n.166+3650del
XM_011515751.1:c.143+113del XP_011514053.1:n.143+113del
XM_011515752.1:c.143+113del XP_011514054.1:n.143+113del
XM_011515753.1:c.-423-4del XP_011514055.1:n.-423-4del
XM_011515754.1:c.-751-4del XP_011514056.1:n.-751-4del