Canonical Allele Identifier: CA1106311530

Gene: CFTR

Linked Data

• dbSNP Id: rs1792373503
• gnomAD v3: 7-117610758-TCTG-T
• gnomAD v4: 7-117610758-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610761_117610763del , CM000669.2:g.117610761_117610763del	GRCh38
NC_000007.13:g.117250815_117250817del , CM000669.1:g.117250815_117250817del	GRCh37
NC_000007.12:g.117038051_117038053del	NCBI36
NG_016465.4:g.149978_149980del , LRG_663:g.149978_149980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3139+92_3139+94del	ENSP00000497673.2:n.3139+92_3139+94del
ENST00000647978.2:c.*2853+92_*2853+94del	ENSP00000497658.1:n.*2853+92_*2853+94del
ENST00000649781.2:c.2956+92_2956+94del	ENSP00000497203.1:n.2956+92_2956+94del
ENST00000685018.2:c.3139+92_3139+94del	ENSP00000510194.2:n.3139+92_3139+94del
ENST00000687278.2:c.3139+92_3139+94del	ENSP00000509593.2:n.3139+92_3139+94del
ENST00000699585.1:c.3139+92_3139+94del	ENSP00000514456.1:n.3139+92_3139+94del
ENST00000699598.1:c.3139+92_3139+94del	ENSP00000514467.1:n.3139+92_3139+94del
ENST00000699599.1:c.3139+92_3139+94del	ENSP00000514468.1:n.3139+92_3139+94del
ENST00000699600.1:c.3139+92_3139+94del	ENSP00000514469.1:n.3139+92_3139+94del
ENST00000699601.1:c.*1439+92_*1439+94del	ENSP00000514470.1:n.*1439+92_*1439+94del
ENST00000699602.1:c.3139+92_3139+94del	ENSP00000514471.1:n.3139+92_3139+94del
ENST00000699604.1:c.*2963+92_*2963+94del	ENSP00000514472.1:n.*2963+92_*2963+94del
ENST00000699605.1:c.2713+92_2713+94del	ENSP00000514473.1:n.2713+92_2713+94del
ENST00000687278.1:c.730+92_730+94del	ENSP00000509593.1:n.730+92_730+94del
ENST00000003084.11:c.3139+92_3139+94del MANE Select	ENSP00000003084.6:n.3139+92_3139+94del
ENST00000647720.1:c.789+92_789+94del
ENST00000648260.1:c.1921+92_1921+94del	ENSP00000497957.1:n.1921+92_1921+94del
ENST00000649406.1:c.2956+92_2956+94del	ENSP00000497965.1:n.2956+92_2956+94del
ENST00000649781.1:c.2956+92_2956+94del	ENSP00000497203.1:n.2956+92_2956+94del
ENST00000003084.10:c.3139+92_3139+94del	ENSP00000003084.6:n.3139+92_3139+94del
ENST00000426809.5:c.3049+92_3049+94del	ENSP00000389119.1:n.3049+92_3049+94del
NM_000492.3:c.3139+92_3139+94del , LRG_663t1:c.3139+92_3139+94del	NP_000483.3:n.3139+92_3139+94del
XM_011515751.1:c.3229+92_3229+94del	XP_011514053.1:n.3229+92_3229+94del
XM_011515752.1:c.3229+92_3229+94del	XP_011514054.1:n.3229+92_3229+94del
XM_011515753.1:c.2896+92_2896+94del	XP_011514055.1:n.2896+92_2896+94del
XM_011515754.1:c.2896+92_2896+94del	XP_011514056.1:n.2896+92_2896+94del
NM_000492.4:c.3139+92_3139+94del MANE Select	NP_000483.3:n.3139+92_3139+94del