Canonical Allele Identifier: CA1801469899

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982735_89982737delinsGAA , CM000670.2:g.89982735_89982737delinsGAA	GRCh38
NC_000008.10:g.90994963_90994965delinsGAA , CM000670.1:g.90994963_90994965delinsGAA	GRCh37
NC_000008.9:g.91064139_91064141delinsGAA	NCBI36
NG_008860.1:g.6935_6937delinsTTC , LRG_158:g.6935_6937delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.260_262delinsTTC
ENST00000517337.2:c.-141_-139delinsTTC	ENSP00000429971.2:n.-141_-139delinsTTC
ENST00000523444.2:c.-141_-139delinsTTC	ENSP00000428252.2:n.-141_-139delinsTTC
ENST00000697292.1:c.156_158delinsTTC	ENSP00000513229.1:p.Phe52=
ENST00000697293.1:c.156_158delinsTTC	ENSP00000513230.1:p.Phe52=
ENST00000697294.1:c.156_158delinsTTC	ENSP00000513231.1:p.Phe52=
ENST00000697295.1:c.37+1788_37+1790delinsTTC	ENSP00000513232.1:n.37+1788_37+1790delins...
ENST00000697296.1:c.156_158delinsTTC	ENSP00000513233.1:p.Phe52=
ENST00000697297.1:n.262_264delinsTTC
ENST00000697298.1:c.-141_-139delinsTTC	ENSP00000513234.1:n.-141_-139delinsTTC
ENST00000697299.1:c.-75-1214_-75-1212delinsTTC	ENSP00000513235.1:n.-75-1214_-75-1212deli...
ENST00000697300.1:c.-141_-139delinsTTC	ENSP00000513236.1:n.-141_-139delinsTTC
ENST00000697301.1:c.-141_-139delinsTTC	ENSP00000513237.1:n.-141_-139delinsTTC
ENST00000697302.1:c.156_158delinsTTC	ENSP00000513238.1:p.Phe52=
ENST00000697303.1:c.156_158delinsTTC	ENSP00000513239.1:p.Phe52=
ENST00000697304.1:c.156_158delinsTTC	ENSP00000513240.1:p.Phe52=
ENST00000697306.1:c.156_158delinsTTC	ENSP00000513241.1:p.Phe52=
ENST00000697307.1:c.156_158delinsTTC	ENSP00000513242.1:p.Phe52=
ENST00000697308.1:c.156_158delinsTTC	ENSP00000513243.1:p.Phe52=
ENST00000697309.1:c.156_158delinsTTC	ENSP00000513244.1:p.Phe52=
ENST00000697310.1:c.156_158delinsTTC	ENSP00000513245.1:p.Phe52=
ENST00000697311.1:c.156_158delinsTTC	ENSP00000513246.1:p.Phe52=
ENST00000697312.1:c.156_158delinsTTC	ENSP00000513247.1:p.Phe52=
ENST00000697313.1:n.268_270delinsTTC
ENST00000697314.1:n.268_270delinsTTC
ENST00000697315.1:c.156_158delinsTTC	ENSP00000513248.1:p.Phe52=
ENST00000697316.1:n.277_279delinsTTC
ENST00000697317.1:n.266_268delinsTTC
ENST00000697318.1:n.268_270delinsTTC
ENST00000265433.8:c.156_158delinsTTC MANE Select	ENSP00000265433.4:p.Phe52=
ENST00000265433.7:c.156_158delinsTTC	ENSP00000265433.3:p.Phe52=
ENST00000396252.6:c.156_158delinsTTC	ENSP00000379551.2:p.Phe52=
ENST00000409330.5:c.-91_-89delinsTTC	ENSP00000386924.1:n.-91_-89delinsTTC
ENST00000494804.1:n.260_262delinsTTC
ENST00000517337.1:c.-141_-139delinsTTC	ENSP00000429971.1:n.-141_-139delinsTTC
ENST00000519426.5:c.156_158delinsTTC	ENSP00000430983.1:p.Phe52=
ENST00000523444.1:c.156_158delinsTTC	ENSP00000428252.1:p.Phe52=
NM_001024688.2:c.-141_-139delinsTTC	NP_001019859.1:n.-141_-139delinsTTC
NM_002485.4:c.156_158delinsTTC , LRG_158t1:c.156_158delinsTTC	NP_002476.2:p.Phe52=
XM_011517044.1:c.132_134delinsTTC	XP_011515346.1:p.Phe44=
XM_011517045.1:c.-141_-139delinsTTC	XP_011515347.1:n.-141_-139delinsTTC
XM_011517046.1:c.156_158delinsTTC	XP_011515348.1:p.Phe52=
XR_928335.1:n.293_295delinsTTC
XM_017013460.1:c.-864_-862delinsTTC	XP_016868949.1:n.-864_-862delinsTTC
XM_017013462.2:c.-670_-668delinsTTC	XP_016868951.1:n.-670_-668delinsTTC
XM_024447163.1:c.-91_-89delinsTTC	XP_024302931.1:n.-91_-89delinsTTC
XM_024447165.1:c.-814_-812delinsTTC	XP_024302933.1:n.-814_-812delinsTTC
NM_002485.5:c.156_158delinsTTC MANE Select	NP_002476.2:p.Phe52=
NM_001024688.3:c.-141_-139delinsTTC	NP_001019859.1:n.-141_-139delinsTTC