Canonical Allele Identifier: CA1737343870

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479396_117479397delinsTG , CM000669.2:g.117479396_117479397delinsTG	GRCh38
NC_000007.13:g.117119450_117119451delinsTG , CM000669.1:g.117119450_117119451delinsTG	GRCh37
NC_000007.12:g.116906686_116906687delinsTG	NCBI36
NG_016465.4:g.18613_18614delinsTG , LRG_663:g.18613_18614delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-424+51_-424+52delinsTG	ENSP00000417012.1:n.-424+51_-424+52delinsTG
ENST00000673785.1:c.-406+13565_-406+13566delinsTG	ENSP00000501235.1:n.-406+13565_-406+13566delinsTG
ENST00000446805.1:c.-424+51_-424+52delinsTG	ENSP00000417012.1:n.-424+51_-424+52delinsTG
ENST00000546407.1:n.166+3588_166+3589delinsTG
XM_011515751.1:c.143+51_143+52delinsTG	XP_011514053.1:n.143+51_143+52delinsTG
XM_011515752.1:c.143+51_143+52delinsTG	XP_011514054.1:n.143+51_143+52delinsTG
XM_011515753.1:c.-424+51_-424+52delinsTG	XP_011514055.1:n.-424+51_-424+52delinsTG
XM_011515754.1:c.-752+51_-752+52delinsTG	XP_011514056.1:n.-752+51_-752+52delinsTG