Canonical Allele Identifier: CA1737385272

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610668_117610670delinsAGG , CM000669.2:g.117610668_117610670delinsAGG	GRCh38
NC_000007.13:g.117250722_117250724delinsAGG , CM000669.1:g.117250722_117250724delinsAGG	GRCh37
NC_000007.12:g.117037958_117037960delinsAGG	NCBI36
NG_016465.4:g.149885_149887delinsAGG , LRG_663:g.149885_149887delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3138_3139+1delinsAGG
ENST00000647978.2:c.*2852_*2853+1delinsAGG
ENST00000649781.2:c.2955_2956+1delinsAGG
ENST00000685018.2:c.3138_3139+1delinsAGG
ENST00000687278.2:c.3138_3139+1delinsAGG
ENST00000699585.1:c.3138_3139+1delinsAGG
ENST00000699598.1:c.3138_3139+1delinsAGG
ENST00000699599.1:c.3138_3139+1delinsAGG
ENST00000699600.1:c.3138_3139+1delinsAGG
ENST00000699601.1:c.*1438_*1439+1delinsAGG
ENST00000699602.1:c.3138_3139+1delinsAGG
ENST00000699604.1:c.*2962_*2963+1delinsAGG
ENST00000699605.1:c.2712_2713+1delinsAGG
ENST00000687278.1:c.729_730+1delinsAGG
ENST00000003084.11:c.3138_3139+1delinsAGG
ENST00000647720.1:c.788_789+1delinsAGG
ENST00000648260.1:c.1920_1921+1delinsAGG
ENST00000649406.1:c.2955_2956+1delinsAGG
ENST00000649781.1:c.2955_2956+1delinsAGG
ENST00000003084.10:c.3138_3139+1delinsAGG
ENST00000426809.5:c.3048_3049+1delinsAGG
NM_000492.3:c.3138_3139+1delinsAGG , LRG_663t1:c.3138_3139+1delinsAGG
XM_011515751.1:c.3228_3229+1delinsAGG
XM_011515752.1:c.3228_3229+1delinsAGG
XM_011515753.1:c.2895_2896+1delinsAGG
XM_011515754.1:c.2895_2896+1delinsAGG
NM_000492.4:c.3138_3139+1delinsAGG