Canonical Allele Identifier: CA1737344024
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479581_117479582delinsTC , CM000669.2:g.117479581_117479582delinsTC GRCh38
NC_000007.13:g.117119635_117119636delinsTC , CM000669.1:g.117119635_117119636delinsTC GRCh37
NC_000007.12:g.116906871_116906872delinsTC NCBI36
NG_016465.4:g.18798_18799delinsTC , LRG_663:g.18798_18799delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-304_-303delinsTC ENSP00000417012.1:n.-304_-303delinsTC
ENST00000673785.1:c.-406+13750_-406+13751delinsTC ENSP00000501235.1:n.-406+13750_-406+13751delinsTC
ENST00000446805.1:c.-304_-303delinsTC ENSP00000417012.1:n.-304_-303delinsTC
ENST00000546407.1:n.166+3773_166+3774delinsTC
XM_011515751.1:c.143+236_143+237delinsTC XP_011514053.1:n.143+236_143+237delinsTC
XM_011515752.1:c.143+236_143+237delinsTC XP_011514054.1:n.143+236_143+237delinsTC
XM_011515753.1:c.-304_-303delinsTC XP_011514055.1:n.-304_-303delinsTC
XM_011515754.1:c.-632_-631delinsTC XP_011514056.1:n.-632_-631delinsTC