Canonical Allele Identifier: CA2684587693

Gene: CFTR

Linked Data

• gnomAD v4: 7-117602853-CTCCTTGGAAAGTGAGTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602857_117602874del , CM000669.2:g.117602857_117602874del	GRCh38
NC_000007.13:g.117242911_117242928del , CM000669.1:g.117242911_117242928del	GRCh37
NC_000007.12:g.117030147_117030164del	NCBI36
NG_016465.4:g.142074_142091del , LRG_663:g.142074_142091del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2651_2657+11del
ENST00000647978.2:c.*2365_*2371+11del
ENST00000649781.2:c.2468_2474+11del
ENST00000685018.2:c.2651_2657+11del
ENST00000687278.2:c.2651_2657+11del
ENST00000699585.1:c.2651_2657+11del
ENST00000699598.1:c.2651_2657+11del
ENST00000699599.1:c.2651_2657+11del
ENST00000699600.1:c.2651_2657+11del
ENST00000699601.1:c.*951_*957+11del
ENST00000699602.1:c.2651_2657+11del
ENST00000699604.1:c.*2475_*2481+11del
ENST00000699605.1:c.2225_2231+11del
ENST00000687278.1:c.242_248+11del
ENST00000003084.11:c.2651_2657+11del
ENST00000647720.1:c.301_307+11del
ENST00000648260.1:c.1433_1439+11del
ENST00000649406.1:c.2468_2474+11del
ENST00000649781.1:c.2468_2474+11del
ENST00000003084.10:c.2651_2657+11del
ENST00000426809.5:c.2561_2567+11del
NM_000492.3:c.2651_2657+11del , LRG_663t1:c.2651_2657+11del
XM_011515751.1:c.2741_2747+11del
XM_011515752.1:c.2741_2747+11del
XM_011515753.1:c.2408_2414+11del
XM_011515754.1:c.2408_2414+11del
NM_000492.4:c.2651_2657+11del