Canonical Allele Identifier: CA2684648937
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652771_117652772insAAA , CM000669.2:g.117652771_117652772insAAA GRCh38
NC_000007.13:g.117292825_117292826insAAA , CM000669.1:g.117292825_117292826insAAA GRCh37
NC_000007.12:g.117080061_117080062insAAA NCBI36
NG_016465.4:g.191988_191989insAAA , LRG_663:g.191988_191989insAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*83-71_*83-70insAAA ENSP00000497673.2:n.*83-71_*83-70insAAA
ENST00000647978.2:c.*3588-71_*3588-70insAAA ENSP00000497658.1:n.*3588-71_*3588-70insA...
ENST00000649781.2:c.3691-71_3691-70insAAA ENSP00000497203.1:n.3691-71_3691-70insAAA...
ENST00000685018.2:c.*87-71_*87-70insAAA ENSP00000510194.2:n.*87-71_*87-70insAAA
ENST00000687278.2:c.*527-71_*527-70insAAA ENSP00000509593.2:n.*527-71_*527-70insAAA...
ENST00000699585.1:c.*83-71_*83-70insAAA ENSP00000514456.1:n.*83-71_*83-70insAAA
ENST00000699598.1:c.3874-71_3874-70insAAA ENSP00000514467.1:n.3874-71_3874-70insAAA...
ENST00000699599.1:c.*87-71_*87-70insAAA ENSP00000514468.1:n.*87-71_*87-70insAAA
ENST00000699600.1:c.*535-71_*535-70insAAA ENSP00000514469.1:n.*535-71_*535-70insAAA...
ENST00000699601.1:c.*2249-71_*2249-70insAAA ENSP00000514470.1:n.*2249-71_*2249-70insA...
ENST00000699602.1:c.3868-71_3868-70insAAA ENSP00000514471.1:n.3868-71_3868-70insAAA...
ENST00000699604.1:c.*3698-71_*3698-70insAAA ENSP00000514472.1:n.*3698-71_*3698-70insA...
ENST00000699605.1:c.3448-71_3448-70insAAA ENSP00000514473.1:n.3448-71_3448-70insAAA...
ENST00000699606.1:n.1971_1972insAAA
ENST00000685018.1:c.738-71_738-70insAAA ENSP00000510194.1:n.738-71_738-70insAAA
ENST00000687278.1:c.1661-71_1661-70insAAA ENSP00000509593.1:n.1661-71_1661-70insAAA...
ENST00000689011.1:c.456-71_456-70insAAA
ENST00000003084.11:c.3874-71_3874-70insAAA MANE Select ENSP00000003084.6:n.3874-71_3874-70insAAA...
ENST00000647720.1:c.1324-71_1324-70insAAA
ENST00000649781.1:c.3691-71_3691-70insAAA ENSP00000497203.1:n.3691-71_3691-70insAAA...
ENST00000003084.10:c.3874-71_3874-70insAAA ENSP00000003084.6:n.3874-71_3874-70insAAA...
ENST00000426809.5:c.3784-71_3784-70insAAA ENSP00000389119.1:n.3784-71_3784-70insAAA...
NM_000492.3:c.3874-71_3874-70insAAA , LRG_663t1:c.3874-71_3874-70insAAA NP_000483.3:n.3874-71_3874-70insAAA
XM_011515751.1:c.3964-71_3964-70insAAA XP_011514053.1:n.3964-71_3964-70insAAA
XM_011515752.1:c.3964-71_3964-70insAAA XP_011514054.1:n.3964-71_3964-70insAAA
XM_011515753.1:c.3631-71_3631-70insAAA XP_011514055.1:n.3631-71_3631-70insAAA
XM_011515754.1:c.3631-71_3631-70insAAA XP_011514056.1:n.3631-71_3631-70insAAA
NM_000492.4:c.3874-71_3874-70insAAA MANE Select NP_000483.3:n.3874-71_3874-70insAAA