Canonical Allele Identifier: CA2573143441

Gene: NBN

Linked Data

• dbSNP Id: rs2129839425

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971271_89971286del , CM000670.2:g.89971271_89971286del	GRCh38
NC_000008.10:g.90983499_90983514del , CM000670.1:g.90983499_90983514del	GRCh37
NC_000008.9:g.91052675_91052690del	NCBI36
NG_008860.1:g.18386_18401del , LRG_158:g.18386_18401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1891_1906del
ENST00000517337.2:c.343_358del	ENSP00000429971.2:p.Tyr115AsnfsTer29
ENST00000523444.2:c.343_358del	ENSP00000428252.2:p.Tyr115AsnfsTer29
ENST00000697292.1:c.589_604del	ENSP00000513229.1:p.Tyr197AsnfsTer29
ENST00000697293.1:c.589_604del	ENSP00000513230.1:p.Tyr197AsnfsTer29
ENST00000697294.1:c.*200_*215del	ENSP00000513231.1:n.*200_*215del
ENST00000697295.1:c.42_57del	ENSP00000513232.1:p.Phe14LeufsTer7
ENST00000697296.1:c.*257_*272del	ENSP00000513233.1:n.*257_*272del
ENST00000697297.1:n.2374_2389del
ENST00000697298.1:c.343_358del	ENSP00000513234.1:p.Tyr115AsnfsTer29
ENST00000697299.1:c.343_358del	ENSP00000513235.1:p.Tyr115AsnfsTer29
ENST00000697300.1:c.*193_*208del	ENSP00000513236.1:n.*193_*208del
ENST00000697301.1:c.*110_*125del	ENSP00000513237.1:n.*110_*125del
ENST00000697302.1:c.*110_*125del	ENSP00000513238.1:n.*110_*125del
ENST00000697303.1:c.*193_*208del	ENSP00000513239.1:n.*193_*208del
ENST00000697304.1:c.585-6779_585-6764del	ENSP00000513240.1:n.585-6779_585-6764del
ENST00000697306.1:c.480+9448_480+9463del	ENSP00000513241.1:n.480+9448_480+9463del
ENST00000697307.1:c.589_604del	ENSP00000513242.1:p.Tyr197AsnfsTer29
ENST00000697308.1:c.589_604del	ENSP00000513243.1:p.Tyr197AsnfsTer29
ENST00000697309.1:c.589_604del	ENSP00000513244.1:p.Tyr197AsnfsTer29
ENST00000697310.1:c.589_604del	ENSP00000513245.1:p.Tyr197AsnfsTer29
ENST00000697311.1:c.589_604del	ENSP00000513246.1:p.Tyr197AsnfsTer29
ENST00000697312.1:c.485_*2del	ENSP00000513247.1:n.[c.485_*2del;Leu162Ter]
ENST00000697313.1:n.2380_2395del
ENST00000697314.1:n.2380_2395del
ENST00000697315.1:c.589_604del	ENSP00000513248.1:p.Tyr197AsnfsTer29
ENST00000697316.1:n.710_725del
ENST00000697317.1:n.699_714del
ENST00000697318.1:n.701_716del
ENST00000265433.8:c.589_604del MANE Select	ENSP00000265433.4:p.Tyr197AsnfsTer29
ENST00000265433.7:c.589_604del	ENSP00000265433.3:p.Tyr197AsnfsTer29
ENST00000396252.6:c.*462_*477del	ENSP00000379551.2:n.*462_*477del
ENST00000409330.5:c.343_358del	ENSP00000386924.1:p.Tyr115AsnfsTer29
ENST00000517772.5:c.343_358del	ENSP00000428717.1:p.Tyr115AsnfsTer29
ENST00000519426.5:c.325_340del	ENSP00000430983.1:p.Tyr109AsnfsTer29
NM_001024688.2:c.343_358del	NP_001019859.1:p.Tyr115AsnfsTer29
NM_002485.4:c.589_604del , LRG_158t1:c.589_604del	NP_002476.2:p.Tyr197AsnfsTer29
XM_011517044.1:c.565_580del	XP_011515346.1:p.Tyr189AsnfsTer29
XM_011517045.1:c.343_358del	XP_011515347.1:p.Tyr115AsnfsTer29
XM_011517046.1:c.589_604del	XP_011515348.1:p.Tyr197AsnfsTer29
XR_928335.1:n.726_741del
XM_017013460.1:c.-291_-276del	XP_016868949.1:n.-291_-276del
XM_017013462.2:c.-291_-276del	XP_016868951.1:n.-291_-276del
XM_024447163.1:c.343_358del	XP_024302931.1:p.Tyr115AsnfsTer29
XM_024447164.1:c.343_358del	XP_024302932.1:p.Tyr115AsnfsTer29
XM_024447165.1:c.-291_-276del	XP_024302933.1:n.-291_-276del
NM_002485.5:c.589_604del MANE Select	NP_002476.2:p.Tyr197AsnfsTer29
NM_001024688.3:c.343_358del	NP_001019859.1:p.Tyr115AsnfsTer29