Canonical Allele Identifier: CA2523921126

Gene: CFTR

Linked Data

• gnomAD v4: 7-117480063-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480066del , CM000669.2:g.117480066del	GRCh38
NC_000007.13:g.117120120del , CM000669.1:g.117120120del	GRCh37
NC_000007.12:g.116907356del	NCBI36
NG_016465.4:g.19283del , LRG_663:g.19283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.-29del	ENSP00000497673.2:n.-29del
ENST00000647978.2:c.-29del	ENSP00000497658.1:n.-29del
ENST00000649781.2:c.-29del	ENSP00000497203.1:n.-29del
ENST00000649850.2:c.-29del	ENSP00000514457.1:n.-29del
ENST00000685018.2:c.-29del	ENSP00000510194.2:n.-29del
ENST00000687278.2:c.-29del	ENSP00000509593.2:n.-29del
ENST00000692802.2:n.56del
ENST00000693465.2:n.57del
ENST00000693480.2:n.56del
ENST00000699585.1:c.-29del	ENSP00000514456.1:n.-29del
ENST00000699596.1:c.-29del	ENSP00000514465.1:n.-29del
ENST00000699597.1:c.-29del	ENSP00000514466.1:n.-29del
ENST00000699598.1:c.-29del	ENSP00000514467.1:n.-29del
ENST00000699599.1:c.-29del	ENSP00000514468.1:n.-29del
ENST00000699600.1:c.-29del	ENSP00000514469.1:n.-29del
ENST00000699601.1:c.-29del	ENSP00000514470.1:n.-29del
ENST00000699602.1:c.-29del	ENSP00000514471.1:n.-29del
ENST00000699603.1:n.56del
ENST00000699604.1:c.-29del	ENSP00000514472.1:n.-29del
ENST00000699605.1:c.-381del	ENSP00000514473.1:n.-381del
ENST00000446805.2:c.-191+372del	ENSP00000417012.1:n.-191+372del
ENST00000692802.1:n.42del
ENST00000693465.1:n.42del
ENST00000693480.1:n.42del
ENST00000003084.11:c.-29del MANE Select	ENSP00000003084.6:n.-29del
ENST00000647639.1:n.56del
ENST00000647978.1:c.-29del	ENSP00000497658.1:n.-29del
ENST00000648260.1:c.-29del	ENSP00000497957.1:n.-29del
ENST00000649406.1:c.-29del	ENSP00000497965.1:n.-29del
ENST00000649850.1:n.55del
ENST00000673785.1:c.-406+14235del	ENSP00000501235.1:n.-406+14235del
ENST00000003084.10:c.-29del	ENSP00000003084.6:n.-29del
ENST00000446805.1:c.-191+372del	ENSP00000417012.1:n.-191+372del
ENST00000546407.1:n.166+4258del
NM_000492.3:c.-29del , LRG_663t1:c.-29del	NP_000483.3:n.-29del
XM_011515751.1:c.143+721del	XP_011514053.1:n.143+721del
XM_011515752.1:c.143+721del	XP_011514054.1:n.143+721del
XM_011515753.1:c.-191+372del	XP_011514055.1:n.-191+372del
XM_011515754.1:c.-518-82del	XP_011514056.1:n.-518-82del
NM_000492.4:c.-29del MANE Select	NP_000483.3:n.-29del