Canonical Allele Identifier: CA2684616407

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479480-CGGGAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479481_117479486del , CM000669.2:g.117479481_117479486del	GRCh38
NC_000007.13:g.117119535_117119540del , CM000669.1:g.117119535_117119540del	GRCh37
NC_000007.12:g.116906771_116906776del	NCBI36
NG_016465.4:g.18698_18703del , LRG_663:g.18698_18703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-404_-399del	ENSP00000417012.1:n.-404_-399del
ENST00000673785.1:c.-406+13650_-406+13655del	ENSP00000501235.1:n.-406+13650_-406+13655del
ENST00000446805.1:c.-404_-399del	ENSP00000417012.1:n.-404_-399del
ENST00000546407.1:n.166+3673_166+3678del
XM_011515751.1:c.143+136_143+141del	XP_011514053.1:n.143+136_143+141del
XM_011515752.1:c.143+136_143+141del	XP_011514054.1:n.143+136_143+141del
XM_011515753.1:c.-404_-399del	XP_011514055.1:n.-404_-399del
XM_011515754.1:c.-732_-727del	XP_011514056.1:n.-732_-727del