Canonical Allele Identifier: CA1801415285

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89936756_89936759delinsTACA , CM000670.2:g.89936756_89936759delinsTACA	GRCh38
NC_000008.10:g.90948984_90948987delinsTACA , CM000670.1:g.90948984_90948987delinsTACA	GRCh37
NC_000008.9:g.91018160_91018163delinsTACA	NCBI36
NG_008860.1:g.52913_52916delinsTGTA , LRG_158:g.52913_52916delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654+267_3654+270delinsTGTA
ENST00000494804.2:n.3536+267_3536+270delinsTGTA
ENST00000517337.2:c.1988+267_1988+270delinsTGTA	ENSP00000429971.2:n.1988+267_1988+270delinsTGTA
ENST00000523444.2:c.1988+267_1988+270delinsTGTA	ENSP00000428252.2:n.1988+267_1988+270delinsTGTA
ENST00000697292.1:c.2234+267_2234+270delinsTGTA	ENSP00000513229.1:n.2234+267_2234+270delinsTGTA
ENST00000697293.1:c.2285+267_2285+270delinsTGTA	ENSP00000513230.1:n.2285+267_2285+270delinsTGTA
ENST00000697294.1:c.*1845+267_*1845+270delinsTGTA	ENSP00000513231.1:n.*1845+267_*1845+270delinsTGTA
ENST00000697295.1:c.*1543+267_*1543+270delinsTGTA	ENSP00000513232.1:n.*1543+267_*1543+270delinsTGTA
ENST00000697296.1:c.*1902+267_*1902+270delinsTGTA	ENSP00000513233.1:n.*1902+267_*1902+270delinsTGTA
ENST00000697297.1:n.4019+267_4019+270delinsTGTA
ENST00000697298.1:c.1988+267_1988+270delinsTGTA	ENSP00000513234.1:n.1988+267_1988+270delinsTGTA
ENST00000697299.1:c.1988+267_1988+270delinsTGTA	ENSP00000513235.1:n.1988+267_1988+270delinsTGTA
ENST00000697300.1:c.*1838+267_*1838+270delinsTGTA	ENSP00000513236.1:n.*1838+267_*1838+270delinsTGTA
ENST00000697301.1:c.*1755+267_*1755+270delinsTGTA	ENSP00000513237.1:n.*1755+267_*1755+270delinsTGTA
ENST00000697302.1:c.*1755+267_*1755+270delinsTGTA	ENSP00000513238.1:n.*1755+267_*1755+270delinsTGTA
ENST00000697303.1:c.*1838+267_*1838+270delinsTGTA	ENSP00000513239.1:n.*1838+267_*1838+270delinsTGTA
ENST00000697304.1:c.1922+267_1922+270delinsTGTA	ENSP00000513240.1:n.1922+267_1922+270delinsTGTA
ENST00000697305.1:n.2501+267_2501+270delinsTGTA
ENST00000697306.1:c.*2785+267_*2785+270delinsTGTA	ENSP00000513241.1:n.*2785+267_*2785+270delinsTGTA
ENST00000697307.1:c.2009+267_2009+270delinsTGTA	ENSP00000513242.1:n.2009+267_2009+270delinsTGTA
ENST00000697308.1:c.2165+267_2165+270delinsTGTA	ENSP00000513243.1:n.2165+267_2165+270delinsTGTA
ENST00000697309.1:c.2185-1147_2185-1144delinsTGTA	ENSP00000513244.1:n.2185-1147_2185-1144delinsTGTA
ENST00000697310.1:c.2234+267_2234+270delinsTGTA	ENSP00000513245.1:n.2234+267_2234+270delinsTGTA
ENST00000697311.1:c.*499+267_*499+270delinsTGTA	ENSP00000513246.1:n.*499+267_*499+270delinsTGTA
ENST00000697312.1:c.*1687+267_*1687+270delinsTGTA	ENSP00000513247.1:n.*1687+267_*1687+270delinsTGTA
ENST00000697313.1:n.2688-1147_2688-1144delinsTGTA
ENST00000697314.1:n.3637-1147_3637-1144delinsTGTA
ENST00000697315.1:c.*138+267_*138+270delinsTGTA	ENSP00000513248.1:n.*138+267_*138+270delinsTGTA
ENST00000697316.1:n.2622_2625delinsTGTA
ENST00000265433.8:c.2234+267_2234+270delinsTGTA MANE Select	ENSP00000265433.4:n.2234+267_2234+270delinsTGTA
ENST00000265433.7:c.2234+267_2234+270delinsTGTA	ENSP00000265433.3:n.2234+267_2234+270delinsTGTA
ENST00000396252.6:c.*2107+267_*2107+270delinsTGTA	ENSP00000379551.2:n.*2107+267_*2107+270delinsTGTA
ENST00000409330.5:c.1988+267_1988+270delinsTGTA	ENSP00000386924.1:n.1988+267_1988+270delinsTGTA
ENST00000474821.1:n.322+267_322+270delinsTGTA
ENST00000613033.1:c.344+267_344+270delinsTGTA	ENSP00000484487.1:n.344+267_344+270delinsTGTA
NM_001024688.2:c.1988+267_1988+270delinsTGTA	NP_001019859.1:n.1988+267_1988+270delinsTGTA
NM_002485.4:c.2234+267_2234+270delinsTGTA , LRG_158t1:c.2234+267_2234+270delinsTGTA	NP_002476.2:n.2234+267_2234+270delinsTGTA
XM_011517044.1:c.2210+267_2210+270delinsTGTA	XP_011515346.1:n.2210+267_2210+270delinsTGTA
XM_011517045.1:c.1988+267_1988+270delinsTGTA	XP_011515347.1:n.1988+267_1988+270delinsTGTA
XM_017013460.1:c.1355+267_1355+270delinsTGTA	XP_016868949.1:n.1355+267_1355+270delinsTGTA
XM_017013462.2:c.1355+267_1355+270delinsTGTA	XP_016868951.1:n.1355+267_1355+270delinsTGTA
XM_024447163.1:c.1988+267_1988+270delinsTGTA	XP_024302931.1:n.1988+267_1988+270delinsTGTA
XM_024447164.1:c.1988+267_1988+270delinsTGTA	XP_024302932.1:n.1988+267_1988+270delinsTGTA
XM_024447165.1:c.1355+267_1355+270delinsTGTA	XP_024302933.1:n.1355+267_1355+270delinsTGTA
NM_002485.5:c.2234+267_2234+270delinsTGTA MANE Select	NP_002476.2:n.2234+267_2234+270delinsTGTA
NM_001024688.3:c.1988+267_1988+270delinsTGTA	NP_001019859.1:n.1988+267_1988+270delinsTGTA