Canonical Allele Identifier: CA1737398594
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627515_117627516delinsAT , CM000669.2:g.117627515_117627516delinsAT GRCh38
NC_000007.13:g.117267569_117267570delinsAT , CM000669.1:g.117267569_117267570delinsAT GRCh37
NC_000007.12:g.117054805_117054806delinsAT NCBI36
NG_016465.4:g.166732_166733delinsAT , LRG_663:g.166732_166733delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3469-7_3469-6delinsAT ENSP00000497673.2:n.3469-7_3469-6delinsAT...
ENST00000647978.2:c.*3183-7_*3183-6delinsAT ENSP00000497658.1:n.*3183-7_*3183-6delins...
ENST00000649781.2:c.3286-7_3286-6delinsAT ENSP00000497203.1:n.3286-7_3286-6delinsAT...
ENST00000685018.2:c.3469-7_3469-6delinsAT ENSP00000510194.2:n.3469-7_3469-6delinsAT...
ENST00000687278.2:c.*122-7_*122-6delinsAT ENSP00000509593.2:n.*122-7_*122-6delinsAT...
ENST00000699585.1:c.3469-7_3469-6delinsAT ENSP00000514456.1:n.3469-7_3469-6delinsAT...
ENST00000699598.1:c.3469-7_3469-6delinsAT ENSP00000514467.1:n.3469-7_3469-6delinsAT...
ENST00000699599.1:c.3469-7_3469-6delinsAT ENSP00000514468.1:n.3469-7_3469-6delinsAT...
ENST00000699600.1:c.*130-7_*130-6delinsAT ENSP00000514469.1:n.*130-7_*130-6delinsAT...
ENST00000699601.1:c.*1844-7_*1844-6delinsAT ENSP00000514470.1:n.*1844-7_*1844-6delins...
ENST00000699602.1:c.3463-7_3463-6delinsAT ENSP00000514471.1:n.3463-7_3463-6delinsAT...
ENST00000699604.1:c.*3293-7_*3293-6delinsAT ENSP00000514472.1:n.*3293-7_*3293-6delins...
ENST00000699605.1:c.3043-7_3043-6delinsAT ENSP00000514473.1:n.3043-7_3043-6delinsAT...
ENST00000685018.1:c.217-7_217-6delinsAT ENSP00000510194.1:n.217-7_217-6delinsAT
ENST00000687278.1:c.1256-7_1256-6delinsAT ENSP00000509593.1:n.1256-7_1256-6delinsAT...
ENST00000689011.1:c.51-7_51-6delinsAT
ENST00000003084.11:c.3469-7_3469-6delinsAT MANE Select ENSP00000003084.6:n.3469-7_3469-6delinsAT...
ENST00000647720.1:c.1119-7_1119-6delinsAT
ENST00000648260.1:c.2251-7_2251-6delinsAT ENSP00000497957.1:n.2251-7_2251-6delinsAT...
ENST00000649406.1:c.3286-7_3286-6delinsAT ENSP00000497965.1:n.3286-7_3286-6delinsAT...
ENST00000649781.1:c.3286-7_3286-6delinsAT ENSP00000497203.1:n.3286-7_3286-6delinsAT...
ENST00000003084.10:c.3469-7_3469-6delinsAT ENSP00000003084.6:n.3469-7_3469-6delinsAT...
ENST00000426809.5:c.3379-7_3379-6delinsAT ENSP00000389119.1:n.3379-7_3379-6delinsAT...
ENST00000468795.1:c.294-7_294-6delinsAT
NM_000492.3:c.3469-7_3469-6delinsAT , LRG_663t1:c.3469-7_3469-6delinsAT NP_000483.3:n.3469-7_3469-6delinsAT
XM_011515751.1:c.3559-7_3559-6delinsAT XP_011514053.1:n.3559-7_3559-6delinsAT
XM_011515752.1:c.3559-7_3559-6delinsAT XP_011514054.1:n.3559-7_3559-6delinsAT
XM_011515753.1:c.3226-7_3226-6delinsAT XP_011514055.1:n.3226-7_3226-6delinsAT
XM_011515754.1:c.3226-7_3226-6delinsAT XP_011514056.1:n.3226-7_3226-6delinsAT
NM_000492.4:c.3469-7_3469-6delinsAT MANE Select NP_000483.3:n.3469-7_3469-6delinsAT