Canonical Allele Identifier: CA2580076292

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706048
• ClinVar RCV Id: RCV002284578

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480143_117480144del , CM000669.2:g.117480143_117480144del	GRCh38
NC_000007.13:g.117120197_117120198del , CM000669.1:g.117120197_117120198del	GRCh37
NC_000007.12:g.116907433_116907434del	NCBI36
NG_016465.4:g.19360_19361del , LRG_663:g.19360_19361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.49_50del	ENSP00000497673.2:p.Phe17GlnfsTer27
ENST00000647978.2:c.49_50del	ENSP00000497658.1:p.Phe17GlnfsTer27
ENST00000649781.2:c.49_50del	ENSP00000497203.1:p.Phe17GlnfsTer27
ENST00000649850.2:c.49_50del	ENSP00000514457.1:p.Phe17GlnfsTer27
ENST00000685018.2:c.49_50del	ENSP00000510194.2:p.Phe17GlnfsTer27
ENST00000687278.2:c.49_50del	ENSP00000509593.2:p.Phe17GlnfsTer27
ENST00000692802.2:n.133_134del
ENST00000693465.2:n.134_135del
ENST00000693480.2:n.133_134del
ENST00000699585.1:c.49_50del	ENSP00000514456.1:p.Phe17GlnfsTer27
ENST00000699596.1:c.49_50del	ENSP00000514465.1:p.Phe17GlnfsTer27
ENST00000699597.1:c.49_50del	ENSP00000514466.1:p.Phe17GlnfsTer27
ENST00000699598.1:c.49_50del	ENSP00000514467.1:p.Phe17GlnfsTer27
ENST00000699599.1:c.49_50del	ENSP00000514468.1:p.Phe17GlnfsTer27
ENST00000699600.1:c.49_50del	ENSP00000514469.1:p.Phe17GlnfsTer27
ENST00000699601.1:c.49_50del	ENSP00000514470.1:p.Phe17GlnfsTer27
ENST00000699602.1:c.49_50del	ENSP00000514471.1:p.Phe17GlnfsTer27
ENST00000699603.1:n.133_134del
ENST00000699604.1:c.49_50del	ENSP00000514472.1:p.Phe17GlnfsTer27
ENST00000699605.1:c.-304_-303del	ENSP00000514473.1:n.-304_-303del
ENST00000446805.2:c.-191+449_-191+450del	ENSP00000417012.1:n.-191+449_-191+450del
ENST00000692802.1:n.119_120del
ENST00000693465.1:n.119_120del
ENST00000693480.1:n.119_120del
ENST00000003084.11:c.49_50del MANE Select	ENSP00000003084.6:p.Phe17GlnfsTer27
ENST00000647639.1:n.133_134del
ENST00000647978.1:c.49_50del	ENSP00000497658.1:p.Phe17GlnfsTer27
ENST00000648260.1:c.49_50del	ENSP00000497957.1:p.Phe17GlnfsTer27
ENST00000649406.1:c.49_50del	ENSP00000497965.1:p.Phe17GlnfsTer27
ENST00000649781.1:c.49_50del	ENSP00000497203.1:p.Phe17GlnfsTer27
ENST00000649850.1:n.132_133del
ENST00000673785.1:c.-406+14312_-406+14313del	ENSP00000501235.1:n.-406+14312_-406+14313del
ENST00000003084.10:c.49_50del	ENSP00000003084.6:p.Phe17GlnfsTer27
ENST00000426809.5:c.49_50del	ENSP00000389119.1:p.Phe17GlnfsTer27
ENST00000446805.1:c.-191+449_-191+450del	ENSP00000417012.1:n.-191+449_-191+450del
ENST00000546407.1:n.166+4335_166+4336del
NM_000492.3:c.49_50del , LRG_663t1:c.49_50del	NP_000483.3:p.Phe17GlnfsTer27
XM_011515751.1:c.143+798_143+799del	XP_011514053.1:n.143+798_143+799del
XM_011515752.1:c.143+798_143+799del	XP_011514054.1:n.143+798_143+799del
XM_011515753.1:c.-191+449_-191+450del	XP_011514055.1:n.-191+449_-191+450del
XM_011515754.1:c.-518-5_-518-4del	XP_011514056.1:n.-518-5_-518-4del
NM_000492.4:c.49_50del MANE Select	NP_000483.3:p.Phe17GlnfsTer27