Canonical Allele Identifier: CA1801507310

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971198_89971199delinsGT , CM000670.2:g.89971198_89971199delinsGT	GRCh38
NC_000008.10:g.90983426_90983427delinsGT , CM000670.1:g.90983426_90983427delinsGT	GRCh37
NC_000008.9:g.91052602_91052603delinsGT	NCBI36
NG_008860.1:g.18473_18474delinsAC , LRG_158:g.18473_18474delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1978_1979delinsAC
ENST00000517337.2:c.430_431delinsAC	ENSP00000429971.2:p.Thr144=
ENST00000523444.2:c.430_431delinsAC	ENSP00000428252.2:p.Thr144=
ENST00000697292.1:c.676_677delinsAC	ENSP00000513229.1:p.Thr226=
ENST00000697293.1:c.676_677delinsAC	ENSP00000513230.1:p.Thr226=
ENST00000697294.1:c.*287_*288delinsAC	ENSP00000513231.1:n.*287_*288delinsAC
ENST00000697295.1:c.129_130delinsAC	ENSP00000513232.1:p.Lys43=
ENST00000697296.1:c.*344_*345delinsAC	ENSP00000513233.1:n.*344_*345delinsAC
ENST00000697297.1:n.2461_2462delinsAC
ENST00000697298.1:c.430_431delinsAC	ENSP00000513234.1:p.Thr144=
ENST00000697299.1:c.430_431delinsAC	ENSP00000513235.1:p.Thr144=
ENST00000697300.1:c.*280_*281delinsAC	ENSP00000513236.1:n.*280_*281delinsAC
ENST00000697301.1:c.*197_*198delinsAC	ENSP00000513237.1:n.*197_*198delinsAC
ENST00000697302.1:c.*197_*198delinsAC	ENSP00000513238.1:n.*197_*198delinsAC
ENST00000697303.1:c.*280_*281delinsAC	ENSP00000513239.1:n.*280_*281delinsAC
ENST00000697304.1:c.585-6692_585-6691delinsAC	ENSP00000513240.1:n.585-6692_585-6691delinsAC
ENST00000697306.1:c.480+9535_480+9536delinsAC	ENSP00000513241.1:n.480+9535_480+9536delinsAC
ENST00000697307.1:c.676_677delinsAC	ENSP00000513242.1:p.Thr226=
ENST00000697308.1:c.676_677delinsAC	ENSP00000513243.1:p.Thr226=
ENST00000697309.1:c.676_677delinsAC	ENSP00000513244.1:p.Thr226=
ENST00000697310.1:c.676_677delinsAC	ENSP00000513245.1:p.Thr226=
ENST00000697311.1:c.676_677delinsAC	ENSP00000513246.1:p.Thr226=
ENST00000697312.1:c.*74_*75delinsAC	ENSP00000513247.1:n.*74_*75delinsAC
ENST00000697313.1:n.2467_2468delinsAC
ENST00000697314.1:n.2467_2468delinsAC
ENST00000697315.1:c.676_677delinsAC	ENSP00000513248.1:p.Thr226=
ENST00000697316.1:n.797_798delinsAC
ENST00000697317.1:n.786_787delinsAC
ENST00000697318.1:n.788_789delinsAC
ENST00000265433.8:c.676_677delinsAC MANE Select	ENSP00000265433.4:p.Thr226=
ENST00000265433.7:c.676_677delinsAC	ENSP00000265433.3:p.Thr226=
ENST00000396252.6:c.*549_*550delinsAC	ENSP00000379551.2:n.*549_*550delinsAC
ENST00000409330.5:c.430_431delinsAC	ENSP00000386924.1:p.Thr144=
ENST00000517772.5:c.430_431delinsAC	ENSP00000428717.1:p.Thr144=
ENST00000519426.5:c.412_413delinsAC	ENSP00000430983.1:p.Thr138=
NM_001024688.2:c.430_431delinsAC	NP_001019859.1:p.Thr144=
NM_002485.4:c.676_677delinsAC , LRG_158t1:c.676_677delinsAC	NP_002476.2:p.Thr226=
XM_011517044.1:c.652_653delinsAC	XP_011515346.1:p.Thr218=
XM_011517045.1:c.430_431delinsAC	XP_011515347.1:p.Thr144=
XM_011517046.1:c.676_677delinsAC	XP_011515348.1:p.Thr226=
XR_928335.1:n.813_814delinsAC
XM_017013460.1:c.-204_-203delinsAC	XP_016868949.1:n.-204_-203delinsAC
XM_017013462.2:c.-204_-203delinsAC	XP_016868951.1:n.-204_-203delinsAC
XM_024447163.1:c.430_431delinsAC	XP_024302931.1:p.Thr144=
XM_024447164.1:c.430_431delinsAC	XP_024302932.1:p.Thr144=
XM_024447165.1:c.-204_-203delinsAC	XP_024302933.1:n.-204_-203delinsAC
NM_002485.5:c.676_677delinsAC MANE Select	NP_002476.2:p.Thr226=
NM_001024688.3:c.430_431delinsAC	NP_001019859.1:p.Thr144=