Canonical Allele Identifier: CA1737343709
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479199_117479202delinsCATT , CM000669.2:g.117479199_117479202delinsCATT GRCh38
NC_000007.13:g.117119253_117119256delinsCATT , CM000669.1:g.117119253_117119256delinsCATT GRCh37
NC_000007.12:g.116906489_116906492delinsCATT NCBI36
NG_016465.4:g.18416_18419delinsCATT , LRG_663:g.18416_18419delinsCATT

Transcript Alleles

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