Canonical Allele Identifier: CA2695208509

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592224_117592225insA , CM000669.2:g.117592224_117592225insA	GRCh38
NC_000007.13:g.117232278_117232279insA , CM000669.1:g.117232278_117232279insA	GRCh37
NC_000007.12:g.117019514_117019515insA	NCBI36
NG_016465.4:g.131441_131442insA , LRG_663:g.131441_131442insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2057_2058insA	ENSP00000497673.2:p.Lys688Ter
ENST00000647978.2:c.*1771_*1772insA	ENSP00000497658.1:n.*1771_*1772insA
ENST00000649781.2:c.1874_1875insA	ENSP00000497203.1:p.Lys627Ter
ENST00000685018.2:c.2057_2058insA	ENSP00000510194.2:p.Lys688Ter
ENST00000687278.2:c.2057_2058insA	ENSP00000509593.2:p.Lys688Ter
ENST00000699585.1:c.2057_2058insA	ENSP00000514456.1:p.Lys688Ter
ENST00000699598.1:c.2057_2058insA	ENSP00000514467.1:p.Lys688Ter
ENST00000699599.1:c.2057_2058insA	ENSP00000514468.1:p.Lys688Ter
ENST00000699600.1:c.2057_2058insA	ENSP00000514469.1:p.Lys688Ter
ENST00000699601.1:c.*357_*358insA	ENSP00000514470.1:n.*357_*358insA
ENST00000699602.1:c.2057_2058insA	ENSP00000514471.1:p.Lys688Ter
ENST00000699604.1:c.*1881_*1882insA	ENSP00000514472.1:n.*1881_*1882insA
ENST00000699605.1:c.1631_1632insA	ENSP00000514473.1:p.Lys546Ter
ENST00000003084.11:c.2057_2058insA MANE Select	ENSP00000003084.6:p.Lys688Ter
ENST00000647978.1:c.*1771_*1772insA	ENSP00000497658.1:n.*1771_*1772insA
ENST00000648260.1:c.1402-10602_1402-10601insA	ENSP00000497957.1:n.1402-10602_1402-10601...
ENST00000649406.1:c.1874_1875insA	ENSP00000497965.1:p.Lys627Ter
ENST00000649781.1:c.1874_1875insA	ENSP00000497203.1:p.Lys627Ter
ENST00000003084.10:c.2057_2058insA	ENSP00000003084.6:p.Lys688Ter
ENST00000426809.5:c.1967_1968insA	ENSP00000389119.1:p.Lys658Ter
NM_000492.3:c.2057_2058insA , LRG_663t1:c.2057_2058insA	NP_000483.3:p.Lys688Ter
XM_011515751.1:c.2147_2148insA	XP_011514053.1:p.Lys718Ter
XM_011515752.1:c.2147_2148insA	XP_011514054.1:p.Lys718Ter
XM_011515753.1:c.1814_1815insA	XP_011514055.1:p.Lys607Ter
XM_011515754.1:c.1814_1815insA	XP_011514056.1:p.Lys607Ter
NM_000492.4:c.2057_2058insA MANE Select	NP_000483.3:p.Lys688Ter