Canonical Allele Identifier: CA913111891
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479199_117479202del , CM000669.2:g.117479199_117479202del GRCh38
NC_000007.13:g.117119253_117119256del , CM000669.1:g.117119253_117119256del GRCh37
NC_000007.12:g.116906489_116906492del NCBI36
NG_016465.4:g.18416_18419del , LRG_663:g.18416_18419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-45_-525-42del ENSP00000417012.1:n.-525-45_-525-42del
ENST00000673785.1:c.-406+13368_-406+13371del ENSP00000501235.1:n.-406+13368_-406+13371del
ENST00000546407.1:n.166+3391_166+3394del
XM_011515751.1:c.42-45_42-42del XP_011514053.1:n.42-45_42-42del
XM_011515752.1:c.42-45_42-42del XP_011514054.1:n.42-45_42-42del
XM_011515754.1:c.-898_-895del XP_011514056.1:n.-898_-895del