Canonical Allele Identifier: CA1737384896

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610570_117610572delinsTAC , CM000669.2:g.117610570_117610572delinsTAC	GRCh38
NC_000007.13:g.117250624_117250626delinsTAC , CM000669.1:g.117250624_117250626delinsTAC	GRCh37
NC_000007.12:g.117037860_117037862delinsTAC	NCBI36
NG_016465.4:g.149787_149789delinsTAC , LRG_663:g.149787_149789delinsTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3040_3042delinsTAC	ENSP00000497673.2:p.Tyr1014=
ENST00000647978.2:c.*2754_*2756delinsTAC	ENSP00000497658.1:n.*2754_*2756delinsTAC
ENST00000649781.2:c.2857_2859delinsTAC	ENSP00000497203.1:p.Tyr953=
ENST00000685018.2:c.3040_3042delinsTAC	ENSP00000510194.2:p.Tyr1014=
ENST00000687278.2:c.3040_3042delinsTAC	ENSP00000509593.2:p.Tyr1014=
ENST00000699585.1:c.3040_3042delinsTAC	ENSP00000514456.1:p.Tyr1014=
ENST00000699598.1:c.3040_3042delinsTAC	ENSP00000514467.1:p.Tyr1014=
ENST00000699599.1:c.3040_3042delinsTAC	ENSP00000514468.1:p.Tyr1014=
ENST00000699600.1:c.3040_3042delinsTAC	ENSP00000514469.1:p.Tyr1014=
ENST00000699601.1:c.*1340_*1342delinsTAC	ENSP00000514470.1:n.*1340_*1342delinsTAC
ENST00000699602.1:c.3040_3042delinsTAC	ENSP00000514471.1:p.Tyr1014=
ENST00000699604.1:c.*2864_*2866delinsTAC	ENSP00000514472.1:n.*2864_*2866delinsTAC
ENST00000699605.1:c.2614_2616delinsTAC	ENSP00000514473.1:p.Tyr872=
ENST00000687278.1:c.631_633delinsTAC	ENSP00000509593.1:p.Tyr211=
ENST00000003084.11:c.3040_3042delinsTAC MANE Select	ENSP00000003084.6:p.Tyr1014=
ENST00000647720.1:c.690_692delinsTAC
ENST00000648260.1:c.1822_1824delinsTAC	ENSP00000497957.1:p.Tyr608=
ENST00000649406.1:c.2857_2859delinsTAC	ENSP00000497965.1:p.Tyr953=
ENST00000649781.1:c.2857_2859delinsTAC	ENSP00000497203.1:p.Tyr953=
ENST00000003084.10:c.3040_3042delinsTAC	ENSP00000003084.6:p.Tyr1014=
ENST00000426809.5:c.2950_2952delinsTAC	ENSP00000389119.1:p.Tyr984=
NM_000492.3:c.3040_3042delinsTAC , LRG_663t1:c.3040_3042delinsTAC	NP_000483.3:p.Tyr1014=
XM_011515751.1:c.3130_3132delinsTAC	XP_011514053.1:p.Tyr1044=
XM_011515752.1:c.3130_3132delinsTAC	XP_011514054.1:p.Tyr1044=
XM_011515753.1:c.2797_2799delinsTAC	XP_011514055.1:p.Tyr933=
XM_011515754.1:c.2797_2799delinsTAC	XP_011514056.1:p.Tyr933=
NM_000492.4:c.3040_3042delinsTAC MANE Select	NP_000483.3:p.Tyr1014=