Canonical Allele Identifier: CA2777590944

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479336_117479337insTTTCTGTGCCACCCTTGG , CM000669.2:g.117479336_117479337insTTTCTGTGCCACCCTTGG	GRCh38
NC_000007.13:g.117119390_117119391insTTTCTGTGCCACCCTTGG , CM000669.1:g.117119390_117119391insTTTCTGTGCCACCCTTGG	GRCh37
NC_000007.12:g.116906626_116906627insTTTCTGTGCCACCCTTGG	NCBI36
NG_016465.4:g.18553_18554insTTTCTGTGCCACCCTTGG , LRG_663:g.18553_18554insTTTCTGTGCCACCCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-433_-432insTTTCTGTGCCACCCTTGG	ENSP00000417012.1:n.-433_-432insTTTCTGTGCCACCCTTGG
ENST00000673785.1:c.-406+13505_-406+13506insTTTCTGTGCCACCCTTGG	ENSP00000501235.1:n.-406+13505_-406+13506insTTTCTGTGCCACCCTTG...
ENST00000446805.1:c.-433_-432insTTTCTGTGCCACCCTTGG	ENSP00000417012.1:n.-433_-432insTTTCTGTGCCACCCTTGG
ENST00000546407.1:n.166+3528_166+3529insTTTCTGTGCCACCCTTGG
XM_011515751.1:c.134_135insTTTCTGTGCCACCCTTGG	XP_011514053.1:p.Glu45delinsAspPheCysAlaThrLeuGly
XM_011515752.1:c.134_135insTTTCTGTGCCACCCTTGG	XP_011514054.1:p.Glu45delinsAspPheCysAlaThrLeuGly
XM_011515753.1:c.-433_-432insTTTCTGTGCCACCCTTGG	XP_011514055.1:n.-433_-432insTTTCTGTGCCACCCTTGG
XM_011515754.1:c.-761_-760insTTTCTGTGCCACCCTTGG	XP_011514056.1:n.-761_-760insTTTCTGTGCCACCCTTGG