Canonical Allele Identifier: CA1737343686

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479154_117479164delinsAAAGGATAGAC , CM000669.2:g.117479154_117479164delinsAAAGGATAGAC	GRCh38
NC_000007.13:g.117119208_117119218delinsAAAGGATAGAC , CM000669.1:g.117119208_117119218delinsAAAGGATAGAC	GRCh37
NC_000007.12:g.116906444_116906454delinsAAAGGATAGAC	NCBI36
NG_016465.4:g.18371_18381delinsAAAGGATAGAC , LRG_663:g.18371_18381delinsAAAGGATAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-90_-525-80delinsAAAGGATAGAC	ENSP00000417012.1:n.-525-90_-525-80delinsAAAGGATAGAC
ENST00000673785.1:c.-406+13323_-406+13333delinsAAAGGATAGAC	ENSP00000501235.1:n.-406+13323_-406+13333delinsAAAGGATAGAC
ENST00000546407.1:n.166+3346_166+3356delinsAAAGGATAGAC
XM_011515751.1:c.42-90_42-80delinsAAAGGATAGAC	XP_011514053.1:n.42-90_42-80delinsAAAGGATAGAC
XM_011515752.1:c.42-90_42-80delinsAAAGGATAGAC	XP_011514054.1:n.42-90_42-80delinsAAAGGATAGAC
XM_011515754.1:c.-943_-933delinsAAAGGATAGAC	XP_011514056.1:n.-943_-933delinsAAAGGATAGAC