Canonical Allele Identifier: CA1737343936

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479485_117479488delinsAAAG , CM000669.2:g.117479485_117479488delinsAAAG	GRCh38
NC_000007.13:g.117119539_117119542delinsAAAG , CM000669.1:g.117119539_117119542delinsAAAG	GRCh37
NC_000007.12:g.116906775_116906778delinsAAAG	NCBI36
NG_016465.4:g.18702_18705delinsAAAG , LRG_663:g.18702_18705delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-400_-397delinsAAAG	ENSP00000417012.1:n.-400_-397delinsAAAG
ENST00000673785.1:c.-406+13654_-406+13657delinsAAAG	ENSP00000501235.1:n.-406+13654_-406+13657delinsAAAG
ENST00000446805.1:c.-400_-397delinsAAAG	ENSP00000417012.1:n.-400_-397delinsAAAG
ENST00000546407.1:n.166+3677_166+3680delinsAAAG
XM_011515751.1:c.143+140_143+143delinsAAAG	XP_011514053.1:n.143+140_143+143delinsAAAG
XM_011515752.1:c.143+140_143+143delinsAAAG	XP_011514054.1:n.143+140_143+143delinsAAAG
XM_011515753.1:c.-400_-397delinsAAAG	XP_011514055.1:n.-400_-397delinsAAAG
XM_011515754.1:c.-728_-725delinsAAAG	XP_011514056.1:n.-728_-725delinsAAAG