Canonical Allele Identifier: CA2687855289

Gene: NBN

Linked Data

• gnomAD v4: 8-89971175-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971178del , CM000670.2:g.89971178del	GRCh38
NC_000008.10:g.90983406del , CM000670.1:g.90983406del	GRCh37
NC_000008.9:g.91052582del	NCBI36
NG_008860.1:g.18496del , LRG_158:g.18496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2001del
ENST00000517337.2:c.453del	ENSP00000429971.2:p.Lys151AsnfsTer6
ENST00000523444.2:c.453del	ENSP00000428252.2:p.Lys151AsnfsTer6
ENST00000697292.1:c.699del	ENSP00000513229.1:p.Lys233AsnfsTer6
ENST00000697293.1:c.699del	ENSP00000513230.1:p.Lys233AsnfsTer6
ENST00000697294.1:c.*310del	ENSP00000513231.1:n.*310del
ENST00000697295.1:c.*8del	ENSP00000513232.1:n.*8del
ENST00000697296.1:c.*367del	ENSP00000513233.1:n.*367del
ENST00000697297.1:n.2484del
ENST00000697298.1:c.453del	ENSP00000513234.1:p.Lys151AsnfsTer6
ENST00000697299.1:c.453del	ENSP00000513235.1:p.Lys151AsnfsTer6
ENST00000697300.1:c.*303del	ENSP00000513236.1:n.*303del
ENST00000697301.1:c.*220del	ENSP00000513237.1:n.*220del
ENST00000697302.1:c.*220del	ENSP00000513238.1:n.*220del
ENST00000697303.1:c.*303del	ENSP00000513239.1:n.*303del
ENST00000697304.1:c.585-6669del	ENSP00000513240.1:n.585-6669del
ENST00000697306.1:c.480+9558del	ENSP00000513241.1:n.480+9558del
ENST00000697307.1:c.699del	ENSP00000513242.1:p.Lys233AsnfsTer6
ENST00000697308.1:c.699del	ENSP00000513243.1:p.Lys233AsnfsTer6
ENST00000697309.1:c.699del	ENSP00000513244.1:p.Lys233AsnfsTer6
ENST00000697310.1:c.699del	ENSP00000513245.1:p.Lys233AsnfsTer6
ENST00000697311.1:c.699del	ENSP00000513246.1:p.Lys233AsnfsTer6
ENST00000697312.1:c.*97del	ENSP00000513247.1:n.*97del
ENST00000697313.1:n.2490del
ENST00000697314.1:n.2490del
ENST00000697315.1:c.699del	ENSP00000513248.1:p.Lys233AsnfsTer6
ENST00000697316.1:n.820del
ENST00000697317.1:n.809del
ENST00000697318.1:n.811del
ENST00000265433.8:c.699del MANE Select	ENSP00000265433.4:p.Lys233AsnfsTer6
ENST00000265433.7:c.699del	ENSP00000265433.3:p.Lys233AsnfsTer6
ENST00000396252.6:c.*572del	ENSP00000379551.2:n.*572del
ENST00000409330.5:c.453del	ENSP00000386924.1:p.Lys151AsnfsTer6
ENST00000517772.5:c.453del	ENSP00000428717.1:p.Lys151AsnfsTer6
ENST00000519426.5:c.435del	ENSP00000430983.1:p.Lys145AsnfsTer6
NM_001024688.2:c.453del	NP_001019859.1:p.Lys151AsnfsTer6
NM_002485.4:c.699del , LRG_158t1:c.699del	NP_002476.2:p.Lys233AsnfsTer6
XM_011517044.1:c.675del	XP_011515346.1:p.Lys225AsnfsTer6
XM_011517045.1:c.453del	XP_011515347.1:p.Lys151AsnfsTer6
XM_011517046.1:c.699del	XP_011515348.1:p.Lys233AsnfsTer6
XR_928335.1:n.836del
XM_017013460.1:c.-181del	XP_016868949.1:n.-181del
XM_017013462.2:c.-181del	XP_016868951.1:n.-181del
XM_024447163.1:c.453del	XP_024302931.1:p.Lys151AsnfsTer6
XM_024447164.1:c.453del	XP_024302932.1:p.Lys151AsnfsTer6
XM_024447165.1:c.-181del	XP_024302933.1:n.-181del
NM_002485.5:c.699del MANE Select	NP_002476.2:p.Lys233AsnfsTer6
NM_001024688.3:c.453del	NP_001019859.1:p.Lys151AsnfsTer6