Canonical Allele Identifier: CA1737343346
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478724_117478725delinsAG , CM000669.2:g.117478724_117478725delinsAG GRCh38
NC_000007.13:g.117118778_117118779delinsAG , CM000669.1:g.117118778_117118779delinsAG GRCh37
NC_000007.12:g.116906014_116906015delinsAG NCBI36
NG_016465.4:g.17941_17942delinsAG , LRG_663:g.17941_17942delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-526+302_-526+303delinsAG ENSP00000417012.1:n.-526+302_-526+303delinsAG
ENST00000673785.1:c.-406+12893_-406+12894delinsAG ENSP00000501235.1:n.-406+12893_-406+12894delinsAG
ENST00000546407.1:n.166+2916_166+2917delinsAG
XM_011515751.1:c.41+302_41+303delinsAG XP_011514053.1:n.41+302_41+303delinsAG
XM_011515752.1:c.41+302_41+303delinsAG XP_011514054.1:n.41+302_41+303delinsAG
XM_011515754.1:c.-1373_-1372delinsAG XP_011514056.1:n.-1373_-1372delinsAG