Canonical Allele Identifier: CA326357
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117480086_117480108del , CM000669.2:g.117480086_117480108del GRCh38
NC_000007.13:g.117120140_117120162del , CM000669.1:g.117120140_117120162del GRCh37
NC_000007.12:g.116907376_116907398del NCBI36
NG_016465.4:g.19303_19325del , LRG_663:g.19303_19325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.-9_14del
ENST00000647978.2:c.-9_14del
ENST00000649781.2:c.-9_14del
ENST00000649850.2:c.-9_14del
ENST00000685018.2:c.-9_14del
ENST00000687278.2:c.-9_14del
ENST00000692802.2:n.76_98del
ENST00000693465.2:n.77_99del
ENST00000693480.2:n.76_98del
ENST00000699585.1:c.-9_14del
ENST00000699596.1:c.-9_14del
ENST00000699597.1:c.-9_14del
ENST00000699598.1:c.-9_14del
ENST00000699599.1:c.-9_14del
ENST00000699600.1:c.-9_14del
ENST00000699601.1:c.-9_14del
ENST00000699602.1:c.-9_14del
ENST00000699603.1:n.76_98del
ENST00000699604.1:c.-9_14del
ENST00000699605.1:c.-361_-339del ENSP00000514473.1:n.-361_-339del
ENST00000446805.2:c.-191+392_-191+414del ENSP00000417012.1:n.-191+392_-191+414del
ENST00000692802.1:n.62_84del
ENST00000693465.1:n.62_84del
ENST00000693480.1:n.62_84del
ENST00000003084.11:c.-9_14del
ENST00000647639.1:n.76_98del
ENST00000647978.1:c.-9_14del
ENST00000648260.1:c.-9_14del
ENST00000649406.1:c.-9_14del
ENST00000649850.1:n.75_97del
ENST00000673785.1:c.-406+14255_-406+14277del ENSP00000501235.1:n.-406+14255_-406+14277del
ENST00000003084.10:c.-9_14del
ENST00000446805.1:c.-191+392_-191+414del ENSP00000417012.1:n.-191+392_-191+414del
ENST00000546407.1:n.166+4278_166+4300del
NM_000492.3:c.-9_14del , LRG_663t1:c.-9_14del
XM_011515751.1:c.143+741_143+763del XP_011514053.1:n.143+741_143+763del
XM_011515752.1:c.143+741_143+763del XP_011514054.1:n.143+741_143+763del
XM_011515753.1:c.-191+392_-191+414del XP_011514055.1:n.-191+392_-191+414del
XM_011515754.1:c.-518-62_-518-40del XP_011514056.1:n.-518-62_-518-40del
NM_000492.4:c.-9_14del
Search 100 bp 5'
Search 100 bp 3'