Canonical Allele Identifier: CA915945443

Gene: CFTR

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627333_117631592del , CM000669.2:g.117627333_117631592del	GRCh38
NC_000007.13:g.117267387_117271646del , CM000669.1:g.117267387_117271646del	GRCh37
NC_000007.12:g.117054623_117058882del	NCBI36
NG_016465.4:g.166550_170809del , LRG_663:g.166550_170809del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3469-189_3517+4022del
ENST00000647978.2:c.*3183-189_*3431+3822del
ENST00000649781.2:c.3286-189_3534+3822del
ENST00000685018.2:c.3469-189_3717+3822del
ENST00000687278.2:c.*122-189_*370+3822del
ENST00000699585.1:c.3469-189_3517+4022del
ENST00000699598.1:c.3469-189_3717+3822del
ENST00000699599.1:c.3469-189_3717+3822del
ENST00000699600.1:c.*130-189_*378+3822del
ENST00000699601.1:c.*1844-189_*2092+3822del
ENST00000699602.1:c.3463-189_3711+3822del
ENST00000699604.1:c.*3293-189_*3541+3822del
ENST00000699605.1:c.3043-189_3291+3822del
ENST00000685018.1:c.217-189_465+3822del
ENST00000687278.1:c.1256-189_1504+3822del
ENST00000689011.1:c.51-189_299+3822del
ENST00000003084.11:c.3469-189_3717+3822del
ENST00000647720.1:c.1119-189_1167+4022del
ENST00000649781.1:c.3286-189_3534+3822del
ENST00000003084.10:c.3469-189_3717+3822del
ENST00000426809.5:c.3379-189_3627+3822del
NM_000492.3:c.3469-189_3717+3822del , LRG_663t1:c.3469-189_3717+3822del
XM_011515751.1:c.3559-189_3807+3822del
XM_011515752.1:c.3559-189_3807+3822del
XM_011515753.1:c.3226-189_3474+3822del
XM_011515754.1:c.3226-189_3474+3822del
NM_000492.4:c.3469-189_3717+3822del