Canonical Allele Identifier: CA1139660223

Gene: CFTR

Linked Data

• ClinVar Variation Id: 993063
• ClinVar RCV Id: RCV001283973
• dbSNP Id: rs1797982244

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480307_117480308del , CM000669.2:g.117480307_117480308del	GRCh38
NC_000007.13:g.117120361_117120362del , CM000669.1:g.117120361_117120362del	GRCh37
NC_000007.12:g.116907597_116907598del	NCBI36
NG_016465.4:g.19524_19525del , LRG_663:g.19524_19525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.53+160_53+161del	ENSP00000497673.2:n.53+160_53+161del
ENST00000647978.2:c.53+160_53+161del	ENSP00000497658.1:n.53+160_53+161del
ENST00000649781.2:c.53+160_53+161del	ENSP00000497203.1:n.53+160_53+161del
ENST00000649850.2:c.53+160_53+161del	ENSP00000514457.1:n.53+160_53+161del
ENST00000685018.2:c.53+160_53+161del	ENSP00000510194.2:n.53+160_53+161del
ENST00000687278.2:c.53+160_53+161del	ENSP00000509593.2:n.53+160_53+161del
ENST00000692802.2:n.147_148del
ENST00000693465.2:n.138+160_138+161del
ENST00000693480.2:n.137+160_137+161del
ENST00000699585.1:c.53+160_53+161del	ENSP00000514456.1:n.53+160_53+161del
ENST00000699596.1:c.53+160_53+161del	ENSP00000514465.1:n.53+160_53+161del
ENST00000699597.1:c.53+160_53+161del	ENSP00000514466.1:n.53+160_53+161del
ENST00000699598.1:c.53+160_53+161del	ENSP00000514467.1:n.53+160_53+161del
ENST00000699599.1:c.53+160_53+161del	ENSP00000514468.1:n.53+160_53+161del
ENST00000699600.1:c.53+160_53+161del	ENSP00000514469.1:n.53+160_53+161del
ENST00000699601.1:c.53+160_53+161del	ENSP00000514470.1:n.53+160_53+161del
ENST00000699602.1:c.53+160_53+161del	ENSP00000514471.1:n.53+160_53+161del
ENST00000699603.1:n.297_298del
ENST00000699604.1:c.53+160_53+161del	ENSP00000514472.1:n.53+160_53+161del
ENST00000699605.1:c.-300+160_-300+161del	ENSP00000514473.1:n.-300+160_-300+161del
ENST00000446805.2:c.-191+613_-191+614del	ENSP00000417012.1:n.-191+613_-191+614del
ENST00000692802.1:n.133_134del
ENST00000693465.1:n.123+160_123+161del
ENST00000693480.1:n.123+160_123+161del
ENST00000003084.11:c.53+160_53+161del MANE Select	ENSP00000003084.6:n.53+160_53+161del
ENST00000647639.1:n.137+160_137+161del
ENST00000647978.1:c.53+160_53+161del	ENSP00000497658.1:n.53+160_53+161del
ENST00000648260.1:c.53+160_53+161del	ENSP00000497957.1:n.53+160_53+161del
ENST00000649406.1:c.53+160_53+161del	ENSP00000497965.1:n.53+160_53+161del
ENST00000649781.1:c.53+160_53+161del	ENSP00000497203.1:n.53+160_53+161del
ENST00000649850.1:n.136+160_136+161del
ENST00000673785.1:c.-406+14476_-406+14477del	ENSP00000501235.1:n.-406+14476_-406+14477del
ENST00000003084.10:c.53+160_53+161del	ENSP00000003084.6:n.53+160_53+161del
ENST00000426809.5:c.53+160_53+161del	ENSP00000389119.1:n.53+160_53+161del
ENST00000446805.1:c.-191+613_-191+614del	ENSP00000417012.1:n.-191+613_-191+614del
ENST00000546407.1:n.166+4499_166+4500del
NM_000492.3:c.53+160_53+161del , LRG_663t1:c.53+160_53+161del	NP_000483.3:n.53+160_53+161del
XM_011515751.1:c.143+962_143+963del	XP_011514053.1:n.143+962_143+963del
XM_011515752.1:c.143+962_143+963del	XP_011514054.1:n.143+962_143+963del
XM_011515753.1:c.-191+613_-191+614del	XP_011514055.1:n.-191+613_-191+614del
XM_011515754.1:c.-359_-358del	XP_011514056.1:n.-359_-358del
NM_000492.4:c.53+160_53+161del MANE Select	NP_000483.3:n.53+160_53+161del