Canonical Allele Identifier: CA1737343598

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478986_117478987delinsAC , CM000669.2:g.117478986_117478987delinsAC	GRCh38
NC_000007.13:g.117119040_117119041delinsAC , CM000669.1:g.117119040_117119041delinsAC	GRCh37
NC_000007.12:g.116906276_116906277delinsAC	NCBI36
NG_016465.4:g.18203_18204delinsAC , LRG_663:g.18203_18204delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-258_-525-257delinsAC	ENSP00000417012.1:n.-525-258_-525-257delinsAC
ENST00000673785.1:c.-406+13155_-406+13156delinsAC	ENSP00000501235.1:n.-406+13155_-406+13156delinsAC
ENST00000546407.1:n.166+3178_166+3179delinsAC
XM_011515751.1:c.42-258_42-257delinsAC	XP_011514053.1:n.42-258_42-257delinsAC
XM_011515752.1:c.42-258_42-257delinsAC	XP_011514054.1:n.42-258_42-257delinsAC
XM_011515754.1:c.-1111_-1110delinsAC	XP_011514056.1:n.-1111_-1110delinsAC