Canonical Allele Identifier: CA1116446978

Gene: NBN

Linked Data

• dbSNP Id: rs1809703357
• gnomAD v3: 8-89936756-TACA-T
• gnomAD v4: 8-89936756-TACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89936761_89936763del , CM000670.2:g.89936761_89936763del	GRCh38
NC_000008.10:g.90948989_90948991del , CM000670.1:g.90948989_90948991del	GRCh37
NC_000008.9:g.91018165_91018167del	NCBI36
NG_008860.1:g.52913_52915del , LRG_158:g.52913_52915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654+267_3654+269del
ENST00000494804.2:n.3536+267_3536+269del
ENST00000517337.2:c.1988+267_1988+269del	ENSP00000429971.2:n.1988+267_1988+269del
ENST00000523444.2:c.1988+267_1988+269del	ENSP00000428252.2:n.1988+267_1988+269del
ENST00000697292.1:c.2234+267_2234+269del	ENSP00000513229.1:n.2234+267_2234+269del
ENST00000697293.1:c.2285+267_2285+269del	ENSP00000513230.1:n.2285+267_2285+269del
ENST00000697294.1:c.*1845+267_*1845+269del	ENSP00000513231.1:n.*1845+267_*1845+269del
ENST00000697295.1:c.*1543+267_*1543+269del	ENSP00000513232.1:n.*1543+267_*1543+269del
ENST00000697296.1:c.*1902+267_*1902+269del	ENSP00000513233.1:n.*1902+267_*1902+269del
ENST00000697297.1:n.4019+267_4019+269del
ENST00000697298.1:c.1988+267_1988+269del	ENSP00000513234.1:n.1988+267_1988+269del
ENST00000697299.1:c.1988+267_1988+269del	ENSP00000513235.1:n.1988+267_1988+269del
ENST00000697300.1:c.*1838+267_*1838+269del	ENSP00000513236.1:n.*1838+267_*1838+269del
ENST00000697301.1:c.*1755+267_*1755+269del	ENSP00000513237.1:n.*1755+267_*1755+269del
ENST00000697302.1:c.*1755+267_*1755+269del	ENSP00000513238.1:n.*1755+267_*1755+269del
ENST00000697303.1:c.*1838+267_*1838+269del	ENSP00000513239.1:n.*1838+267_*1838+269del
ENST00000697304.1:c.1922+267_1922+269del	ENSP00000513240.1:n.1922+267_1922+269del
ENST00000697305.1:n.2501+267_2501+269del
ENST00000697306.1:c.*2785+267_*2785+269del	ENSP00000513241.1:n.*2785+267_*2785+269del
ENST00000697307.1:c.2009+267_2009+269del	ENSP00000513242.1:n.2009+267_2009+269del
ENST00000697308.1:c.2165+267_2165+269del	ENSP00000513243.1:n.2165+267_2165+269del
ENST00000697309.1:c.2185-1147_2185-1145del	ENSP00000513244.1:n.2185-1147_2185-1145del
ENST00000697310.1:c.2234+267_2234+269del	ENSP00000513245.1:n.2234+267_2234+269del
ENST00000697311.1:c.*499+267_*499+269del	ENSP00000513246.1:n.*499+267_*499+269del
ENST00000697312.1:c.*1687+267_*1687+269del	ENSP00000513247.1:n.*1687+267_*1687+269del
ENST00000697313.1:n.2688-1147_2688-1145del
ENST00000697314.1:n.3637-1147_3637-1145del
ENST00000697315.1:c.*138+267_*138+269del	ENSP00000513248.1:n.*138+267_*138+269del
ENST00000697316.1:n.2622_2624del
ENST00000265433.8:c.2234+267_2234+269del MANE Select	ENSP00000265433.4:n.2234+267_2234+269del
ENST00000265433.7:c.2234+267_2234+269del	ENSP00000265433.3:n.2234+267_2234+269del
ENST00000396252.6:c.*2107+267_*2107+269del	ENSP00000379551.2:n.*2107+267_*2107+269del
ENST00000409330.5:c.1988+267_1988+269del	ENSP00000386924.1:n.1988+267_1988+269del
ENST00000474821.1:n.322+267_322+269del
ENST00000613033.1:c.344+267_344+269del	ENSP00000484487.1:n.344+267_344+269del
NM_001024688.2:c.1988+267_1988+269del	NP_001019859.1:n.1988+267_1988+269del
NM_002485.4:c.2234+267_2234+269del , LRG_158t1:c.2234+267_2234+269del	NP_002476.2:n.2234+267_2234+269del
XM_011517044.1:c.2210+267_2210+269del	XP_011515346.1:n.2210+267_2210+269del
XM_011517045.1:c.1988+267_1988+269del	XP_011515347.1:n.1988+267_1988+269del
XM_017013460.1:c.1355+267_1355+269del	XP_016868949.1:n.1355+267_1355+269del
XM_017013462.2:c.1355+267_1355+269del	XP_016868951.1:n.1355+267_1355+269del
XM_024447163.1:c.1988+267_1988+269del	XP_024302931.1:n.1988+267_1988+269del
XM_024447164.1:c.1988+267_1988+269del	XP_024302932.1:n.1988+267_1988+269del
XM_024447165.1:c.1355+267_1355+269del	XP_024302933.1:n.1355+267_1355+269del
NM_002485.5:c.2234+267_2234+269del MANE Select	NP_002476.2:n.2234+267_2234+269del
NM_001024688.3:c.1988+267_1988+269del	NP_001019859.1:n.1988+267_1988+269del