Canonical Allele Identifier: CA1737343436
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478829_117478830delinsAG , CM000669.2:g.117478829_117478830delinsAG GRCh38
NC_000007.13:g.117118883_117118884delinsAG , CM000669.1:g.117118883_117118884delinsAG GRCh37
NC_000007.12:g.116906119_116906120delinsAG NCBI36
NG_016465.4:g.18046_18047delinsAG , LRG_663:g.18046_18047delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-526+407_-526+408delinsAG ENSP00000417012.1:n.-526+407_-526+408delinsAG
ENST00000673785.1:c.-406+12998_-406+12999delinsAG ENSP00000501235.1:n.-406+12998_-406+12999delinsAG
ENST00000546407.1:n.166+3021_166+3022delinsAG
XM_011515751.1:c.41+407_41+408delinsAG XP_011514053.1:n.41+407_41+408delinsAG
XM_011515752.1:c.41+407_41+408delinsAG XP_011514054.1:n.41+407_41+408delinsAG
XM_011515754.1:c.-1268_-1267delinsAG XP_011514056.1:n.-1268_-1267delinsAG