Canonical Allele Identifier: CA2684619891
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614619_117614621del , CM000669.2:g.117614619_117614621del GRCh38
NC_000007.13:g.117254673_117254675del , CM000669.1:g.117254673_117254675del GRCh37
NC_000007.12:g.117041909_117041911del NCBI36
NG_016465.4:g.153836_153838del , LRG_663:g.153836_153838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3374_3376del ENSP00000497673.2:p.Gly1125del
ENST00000647978.2:c.*3088_*3090del ENSP00000497658.1:n.*3088_*3090del
ENST00000649781.2:c.3191_3193del ENSP00000497203.1:p.Gly1064del
ENST00000685018.2:c.3374_3376del ENSP00000510194.2:p.Gly1125del
ENST00000687278.2:c.3374_3376del ENSP00000509593.2:p.Gly1125del
ENST00000699585.1:c.3374_3376del ENSP00000514456.1:p.Gly1125del
ENST00000699598.1:c.3374_3376del ENSP00000514467.1:p.Gly1125del
ENST00000699599.1:c.3374_3376del ENSP00000514468.1:p.Gly1125del
ENST00000699600.1:c.3374_3376del ENSP00000514469.1:p.Gly1125del
ENST00000699601.1:c.*1749_*1751del ENSP00000514470.1:n.*1749_*1751del
ENST00000699602.1:c.3368_3370del
ENST00000699604.1:c.*3198_*3200del ENSP00000514472.1:n.*3198_*3200del
ENST00000699605.1:c.2948_2950del ENSP00000514473.1:p.Gly983del
ENST00000685018.1:c.122_124del ENSP00000510194.1:p.Gly41del
ENST00000687278.1:c.965_967del ENSP00000509593.1:p.Gly322del
ENST00000003084.11:c.3374_3376del MANE Select ENSP00000003084.6:p.Gly1125del
ENST00000647720.1:c.1024_1026del
ENST00000648260.1:c.2156_2158del ENSP00000497957.1:p.Gly719del
ENST00000649406.1:c.3191_3193del ENSP00000497965.1:p.Gly1064del
ENST00000649781.1:c.3191_3193del ENSP00000497203.1:p.Gly1064del
ENST00000003084.10:c.3374_3376del ENSP00000003084.6:p.Gly1125del
ENST00000426809.5:c.3284_3286del ENSP00000389119.1:p.Gly1095del
ENST00000468795.1:c.199_201del
NM_000492.3:c.3374_3376del , LRG_663t1:c.3374_3376del NP_000483.3:p.Gly1125del
XM_011515751.1:c.3464_3466del XP_011514053.1:p.Gly1155del
XM_011515752.1:c.3464_3466del XP_011514054.1:p.Gly1155del
XM_011515753.1:c.3131_3133del XP_011514055.1:p.Gly1044del
XM_011515754.1:c.3131_3133del XP_011514056.1:p.Gly1044del
NM_000492.4:c.3374_3376del MANE Select NP_000483.3:p.Gly1125del