Canonical Allele Identifier: CA1139532136

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117607926_117616824del , CM000669.2:g.117607926_117616824del	GRCh38
NC_000007.13:g.117247980_117256878del , CM000669.1:g.117247980_117256878del	GRCh37
NC_000007.12:g.117035216_117044114del	NCBI36
NG_016465.4:g.147143_156041del , LRG_663:g.147143_156041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2988+1173_3468+2111del
ENST00000647978.2:c.*2702+1173_*3182+2111del
ENST00000649781.2:c.2805+1173_3285+2111del
ENST00000685018.2:c.2988+1173_3468+2111del
ENST00000687278.2:c.2988+1173_3468+2111del
ENST00000699585.1:c.2988+1173_3468+2111del
ENST00000699598.1:c.2988+1173_3468+2111del
ENST00000699599.1:c.2988+1173_3468+2111del
ENST00000699600.1:c.2988+1173_3468+2111del
ENST00000699601.1:c.*1288+1173_*1843+2111del
ENST00000699602.1:c.2988+1173_3462+2111del
ENST00000699604.1:c.*2812+1173_*3292+2111del
ENST00000699605.1:c.2562+1173_3042+2111del
ENST00000687278.1:c.579+1173_1059+2111del
ENST00000003084.11:c.2988+1173_3468+2111del
ENST00000647720.1:c.638+1173_1118+2111del
ENST00000648260.1:c.1770+1173_2250+2111del
ENST00000649406.1:c.2805+1173_3285+2111del
ENST00000649781.1:c.2805+1173_3285+2111del
ENST00000003084.10:c.2988+1173_3468+2111del
ENST00000426809.5:c.2898+1173_3378+2111del
NM_000492.3:c.2988+1173_3468+2111del , LRG_663t1:c.2988+1173_3468+2111del
XM_011515751.1:c.3078+1173_3558+2111del
XM_011515752.1:c.3078+1173_3558+2111del
XM_011515753.1:c.2745+1173_3225+2111del
XM_011515754.1:c.2745+1173_3225+2111del
NM_000492.4:c.2988+1173_3468+2111del