Canonical Allele Identifier: CA1737392087

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614659_117614662delinsTATC , CM000669.2:g.117614659_117614662delinsTATC	GRCh38
NC_000007.13:g.117254713_117254716delinsTATC , CM000669.1:g.117254713_117254716delinsTATC	GRCh37
NC_000007.12:g.117041949_117041952delinsTATC	NCBI36
NG_016465.4:g.153876_153879delinsTATC , LRG_663:g.153876_153879delinsTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3414_3417delinsTATC	ENSP00000497673.2:p.Asn1138=
ENST00000647978.2:c.*3128_*3131delinsTATC	ENSP00000497658.1:n.*3128_*3131delinsTATC
ENST00000649781.2:c.3231_3234delinsTATC	ENSP00000497203.1:p.Asn1077=
ENST00000685018.2:c.3414_3417delinsTATC	ENSP00000510194.2:p.Asn1138=
ENST00000687278.2:c.3414_3417delinsTATC	ENSP00000509593.2:p.Asn1138=
ENST00000699585.1:c.3414_3417delinsTATC	ENSP00000514456.1:p.Asn1138=
ENST00000699598.1:c.3414_3417delinsTATC	ENSP00000514467.1:p.Asn1138=
ENST00000699599.1:c.3414_3417delinsTATC	ENSP00000514468.1:p.Asn1138=
ENST00000699600.1:c.3414_3417delinsTATC	ENSP00000514469.1:p.Asn1138=
ENST00000699601.1:c.*1789_*1792delinsTATC	ENSP00000514470.1:n.*1789_*1792delinsTATC
ENST00000699602.1:c.3408_3411delinsTATC	ENSP00000514471.1:p.Asn1136=
ENST00000699604.1:c.*3238_*3241delinsTATC	ENSP00000514472.1:n.*3238_*3241delinsTATC
ENST00000699605.1:c.2988_2991delinsTATC	ENSP00000514473.1:p.Asn996=
ENST00000685018.1:c.162_165delinsTATC	ENSP00000510194.1:p.Asn54=
ENST00000687278.1:c.1005_1008delinsTATC	ENSP00000509593.1:p.Asn335=
ENST00000003084.11:c.3414_3417delinsTATC MANE Select	ENSP00000003084.6:p.Asn1138=
ENST00000647720.1:c.1064_1067delinsTATC
ENST00000648260.1:c.2196_2199delinsTATC	ENSP00000497957.1:p.Asn732=
ENST00000649406.1:c.3231_3234delinsTATC	ENSP00000497965.1:p.Asn1077=
ENST00000649781.1:c.3231_3234delinsTATC	ENSP00000497203.1:p.Asn1077=
ENST00000003084.10:c.3414_3417delinsTATC	ENSP00000003084.6:p.Asn1138=
ENST00000426809.5:c.3324_3327delinsTATC	ENSP00000389119.1:p.Asn1108=
ENST00000468795.1:c.239_242delinsTATC
NM_000492.3:c.3414_3417delinsTATC , LRG_663t1:c.3414_3417delinsTATC	NP_000483.3:p.Asn1138=
XM_011515751.1:c.3504_3507delinsTATC	XP_011514053.1:p.Asn1168=
XM_011515752.1:c.3504_3507delinsTATC	XP_011514054.1:p.Asn1168=
XM_011515753.1:c.3171_3174delinsTATC	XP_011514055.1:p.Asn1057=
XM_011515754.1:c.3171_3174delinsTATC	XP_011514056.1:p.Asn1057=
NM_000492.4:c.3414_3417delinsTATC MANE Select	NP_000483.3:p.Asn1138=