Canonical Allele Identifier: CA1106299784
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478860_117478863del , CM000669.2:g.117478860_117478863del GRCh38
NC_000007.13:g.117118914_117118917del , CM000669.1:g.117118914_117118917del GRCh37
NC_000007.12:g.116906150_116906153del NCBI36
NG_016465.4:g.18077_18080del , LRG_663:g.18077_18080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-384_-525-381del ENSP00000417012.1:n.-525-384_-525-381del
ENST00000673785.1:c.-406+13029_-406+13032del ENSP00000501235.1:n.-406+13029_-406+13032del
ENST00000546407.1:n.166+3052_166+3055del
XM_011515751.1:c.42-384_42-381del XP_011514053.1:n.42-384_42-381del
XM_011515752.1:c.42-384_42-381del XP_011514054.1:n.42-384_42-381del
XM_011515754.1:c.-1237_-1234del XP_011514056.1:n.-1237_-1234del