Canonical Allele Identifier: CA1737379757

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606745_117606754delinsTTCATCCAGG , CM000669.2:g.117606745_117606754delinsTTCATCCAGG	GRCh38
NC_000007.13:g.117246799_117246808delinsTTCATCCAGG , CM000669.1:g.117246799_117246808delinsTTCATCCAGG	GRCh37
NC_000007.12:g.117034035_117034044delinsTTCATCCAGG	NCBI36
NG_016465.4:g.145962_145971delinsTTCATCCAGG , LRG_663:g.145962_145971delinsTTCATCCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2980_2988+1delinsTTCATCCAGG
ENST00000647978.2:c.*2694_*2702+1delinsTTCATCCAGG
ENST00000649781.2:c.2797_2805+1delinsTTCATCCAGG
ENST00000685018.2:c.2980_2988+1delinsTTCATCCAGG
ENST00000687278.2:c.2980_2988+1delinsTTCATCCAGG
ENST00000699585.1:c.2980_2988+1delinsTTCATCCAGG
ENST00000699598.1:c.2980_2988+1delinsTTCATCCAGG
ENST00000699599.1:c.2980_2988+1delinsTTCATCCAGG
ENST00000699600.1:c.2980_2988+1delinsTTCATCCAGG
ENST00000699601.1:c.*1280_*1288+1delinsTTCATCCAGG
ENST00000699602.1:c.2980_2988+1delinsTTCATCCAGG
ENST00000699604.1:c.*2804_*2812+1delinsTTCATCCAGG
ENST00000699605.1:c.2554_2562+1delinsTTCATCCAGG
ENST00000687278.1:c.571_579+1delinsTTCATCCAGG
ENST00000003084.11:c.2980_2988+1delinsTTCATCCAGG
ENST00000647720.1:c.630_638+1delinsTTCATCCAGG
ENST00000648260.1:c.1762_1770+1delinsTTCATCCAGG
ENST00000649406.1:c.2797_2805+1delinsTTCATCCAGG
ENST00000649781.1:c.2797_2805+1delinsTTCATCCAGG
ENST00000003084.10:c.2980_2988+1delinsTTCATCCAGG
ENST00000426809.5:c.2890_2898+1delinsTTCATCCAGG
NM_000492.3:c.2980_2988+1delinsTTCATCCAGG , LRG_663t1:c.2980_2988+1delinsTTCATCCAGG
XM_011515751.1:c.3070_3078+1delinsTTCATCCAGG
XM_011515752.1:c.3070_3078+1delinsTTCATCCAGG
XM_011515753.1:c.2737_2745+1delinsTTCATCCAGG
XM_011515754.1:c.2737_2745+1delinsTTCATCCAGG
NM_000492.4:c.2980_2988+1delinsTTCATCCAGG