Canonical Allele Identifier: CA1737343412

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478797_117478803delinsTCAAACA , CM000669.2:g.117478797_117478803delinsTCAAACA	GRCh38
NC_000007.13:g.117118851_117118857delinsTCAAACA , CM000669.1:g.117118851_117118857delinsTCAAACA	GRCh37
NC_000007.12:g.116906087_116906093delinsTCAAACA	NCBI36
NG_016465.4:g.18014_18020delinsTCAAACA , LRG_663:g.18014_18020delinsTCAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+375_-526+381delinsTCAAACA	ENSP00000417012.1:n.-526+375_-526+381delinsTCAAACA
ENST00000673785.1:c.-406+12966_-406+12972delinsTCAAACA	ENSP00000501235.1:n.-406+12966_-406+12972delinsTCAAACA
ENST00000546407.1:n.166+2989_166+2995delinsTCAAACA
XM_011515751.1:c.41+375_41+381delinsTCAAACA	XP_011514053.1:n.41+375_41+381delinsTCAAACA
XM_011515752.1:c.41+375_41+381delinsTCAAACA	XP_011514054.1:n.41+375_41+381delinsTCAAACA
XM_011515754.1:c.-1300_-1294delinsTCAAACA	XP_011514056.1:n.-1300_-1294delinsTCAAACA