Canonical Allele Identifier: CA1737334652

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117504129_117504130delinsAT , CM000669.2:g.117504129_117504130delinsAT	GRCh38
NC_000007.13:g.117144183_117144184delinsAT , CM000669.1:g.117144183_117144184delinsAT	GRCh37
NC_000007.12:g.116931419_116931420delinsAT	NCBI36
NG_016465.4:g.43346_43347delinsAT , LRG_663:g.43346_43347delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.54-124_54-123delinsAT	ENSP00000497673.2:n.54-124_54-123delinsAT
ENST00000647978.2:c.54-124_54-123delinsAT	ENSP00000497658.1:n.54-124_54-123delinsAT
ENST00000649781.2:c.54-124_54-123delinsAT	ENSP00000497203.1:n.54-124_54-123delinsAT
ENST00000649850.2:c.54-124_54-123delinsAT	ENSP00000514457.1:n.54-124_54-123delinsAT
ENST00000685018.2:c.54-124_54-123delinsAT	ENSP00000510194.2:n.54-124_54-123delinsAT
ENST00000687278.2:c.54-124_54-123delinsAT	ENSP00000509593.2:n.54-124_54-123delinsAT
ENST00000693465.2:n.139-124_139-123delinsAT
ENST00000699585.1:c.54-124_54-123delinsAT	ENSP00000514456.1:n.54-124_54-123delinsAT
ENST00000699596.1:c.54-124_54-123delinsAT	ENSP00000514465.1:n.54-124_54-123delinsAT
ENST00000699597.1:c.54-124_54-123delinsAT	ENSP00000514466.1:n.54-124_54-123delinsAT
ENST00000699598.1:c.54-124_54-123delinsAT	ENSP00000514467.1:n.54-124_54-123delinsAT
ENST00000699599.1:c.54-124_54-123delinsAT	ENSP00000514468.1:n.54-124_54-123delinsAT
ENST00000699600.1:c.54-124_54-123delinsAT	ENSP00000514469.1:n.54-124_54-123delinsAT
ENST00000699601.1:c.54-124_54-123delinsAT	ENSP00000514470.1:n.54-124_54-123delinsAT
ENST00000699602.1:c.54-124_54-123delinsAT	ENSP00000514471.1:n.54-124_54-123delinsAT
ENST00000699604.1:c.54-124_54-123delinsAT	ENSP00000514472.1:n.54-124_54-123delinsAT
ENST00000699605.1:c.-190-124_-190-123delinsAT	ENSP00000514473.1:n.-190-124_-190-123delinsAT
ENST00000446805.2:c.-190-124_-190-123delinsAT	ENSP00000417012.1:n.-190-124_-190-123delinsAT
ENST00000693465.1:n.124-124_124-123delinsAT
ENST00000003084.11:c.54-124_54-123delinsAT MANE Select	ENSP00000003084.6:n.54-124_54-123delinsAT
ENST00000647639.1:n.138-124_138-123delinsAT
ENST00000647978.1:c.54-124_54-123delinsAT	ENSP00000497658.1:n.54-124_54-123delinsAT
ENST00000648260.1:c.54-124_54-123delinsAT	ENSP00000497957.1:n.54-124_54-123delinsAT
ENST00000649406.1:c.54-124_54-123delinsAT	ENSP00000497965.1:n.54-124_54-123delinsAT
ENST00000649781.1:c.54-124_54-123delinsAT	ENSP00000497203.1:n.54-124_54-123delinsAT
ENST00000649850.1:n.137-124_137-123delinsAT
ENST00000673785.1:c.-190-124_-190-123delinsAT	ENSP00000501235.1:n.-190-124_-190-123delinsAT
ENST00000003084.10:c.54-124_54-123delinsAT	ENSP00000003084.6:n.54-124_54-123delinsAT
ENST00000426809.5:c.54-124_54-123delinsAT	ENSP00000389119.1:n.54-124_54-123delinsAT
ENST00000446805.1:c.-190-124_-190-123delinsAT	ENSP00000417012.1:n.-190-124_-190-123delinsAT
ENST00000546407.1:n.167-124_167-123delinsAT
NM_000492.3:c.54-124_54-123delinsAT , LRG_663t1:c.54-124_54-123delinsAT	NP_000483.3:n.54-124_54-123delinsAT
XM_011515751.1:c.144-124_144-123delinsAT	XP_011514053.1:n.144-124_144-123delinsAT
XM_011515752.1:c.144-124_144-123delinsAT	XP_011514054.1:n.144-124_144-123delinsAT
XM_011515753.1:c.-190-124_-190-123delinsAT	XP_011514055.1:n.-190-124_-190-123delinsAT
XM_011515754.1:c.-264-124_-264-123delinsAT	XP_011514056.1:n.-264-124_-264-123delinsAT
NM_000492.4:c.54-124_54-123delinsAT MANE Select	NP_000483.3:n.54-124_54-123delinsAT