Canonical Allele Identifier: CA2777591001
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479591_117479593del , CM000669.2:g.117479591_117479593del GRCh38
NC_000007.13:g.117119645_117119647del , CM000669.1:g.117119645_117119647del GRCh37
NC_000007.12:g.116906881_116906883del NCBI36
NG_016465.4:g.18808_18810del , LRG_663:g.18808_18810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-294_-292del ENSP00000417012.1:n.-294_-292del
ENST00000673785.1:c.-406+13760_-406+13762del ENSP00000501235.1:n.-406+13760_-406+13762del
ENST00000446805.1:c.-294_-292del ENSP00000417012.1:n.-294_-292del
ENST00000546407.1:n.166+3783_166+3785del
XM_011515751.1:c.143+246_143+248del XP_011514053.1:n.143+246_143+248del
XM_011515752.1:c.143+246_143+248del XP_011514054.1:n.143+246_143+248del
XM_011515753.1:c.-294_-292del XP_011514055.1:n.-294_-292del
XM_011515754.1:c.-622_-620del XP_011514056.1:n.-622_-620del