Canonical Allele Identifier: CA1737343713
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479204_117479207delinsTCTC , CM000669.2:g.117479204_117479207delinsTCTC GRCh38
NC_000007.13:g.117119258_117119261delinsTCTC , CM000669.1:g.117119258_117119261delinsTCTC GRCh37
NC_000007.12:g.116906494_116906497delinsTCTC NCBI36
NG_016465.4:g.18421_18424delinsTCTC , LRG_663:g.18421_18424delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-40_-525-37delinsTCTC ENSP00000417012.1:n.-525-40_-525-37delinsTCTC
ENST00000673785.1:c.-406+13373_-406+13376delinsTCTC ENSP00000501235.1:n.-406+13373_-406+13376delinsTCTC
ENST00000546407.1:n.166+3396_166+3399delinsTCTC
XM_011515751.1:c.42-40_42-37delinsTCTC XP_011514053.1:n.42-40_42-37delinsTCTC
XM_011515752.1:c.42-40_42-37delinsTCTC XP_011514054.1:n.42-40_42-37delinsTCTC
XM_011515754.1:c.-893_-890delinsTCTC XP_011514056.1:n.-893_-890delinsTCTC