Canonical Allele Identifier: CA1801415263

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89936707_89936708delinsCA , CM000670.2:g.89936707_89936708delinsCA	GRCh38
NC_000008.10:g.90948935_90948936delinsCA , CM000670.1:g.90948935_90948936delinsCA	GRCh37
NC_000008.9:g.91018111_91018112delinsCA	NCBI36
NG_008860.1:g.52964_52965delinsTG , LRG_158:g.52964_52965delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654+318_3654+319delinsTG
ENST00000494804.2:n.3536+318_3536+319delinsTG
ENST00000517337.2:c.1988+318_1988+319delinsTG	ENSP00000429971.2:n.1988+318_1988+319delinsTG
ENST00000523444.2:c.1988+318_1988+319delinsTG	ENSP00000428252.2:n.1988+318_1988+319delinsTG
ENST00000697292.1:c.2234+318_2234+319delinsTG	ENSP00000513229.1:n.2234+318_2234+319delinsTG
ENST00000697293.1:c.2285+318_2285+319delinsTG	ENSP00000513230.1:n.2285+318_2285+319delinsTG
ENST00000697294.1:c.*1845+318_*1845+319delinsTG	ENSP00000513231.1:n.*1845+318_*1845+319delinsTG
ENST00000697295.1:c.*1543+318_*1543+319delinsTG	ENSP00000513232.1:n.*1543+318_*1543+319delinsTG
ENST00000697296.1:c.*1902+318_*1902+319delinsTG	ENSP00000513233.1:n.*1902+318_*1902+319delinsTG
ENST00000697297.1:n.4019+318_4019+319delinsTG
ENST00000697298.1:c.1988+318_1988+319delinsTG	ENSP00000513234.1:n.1988+318_1988+319delinsTG
ENST00000697299.1:c.1988+318_1988+319delinsTG	ENSP00000513235.1:n.1988+318_1988+319delinsTG
ENST00000697300.1:c.*1838+318_*1838+319delinsTG	ENSP00000513236.1:n.*1838+318_*1838+319delinsTG
ENST00000697301.1:c.*1755+318_*1755+319delinsTG	ENSP00000513237.1:n.*1755+318_*1755+319delinsTG
ENST00000697302.1:c.*1755+318_*1755+319delinsTG	ENSP00000513238.1:n.*1755+318_*1755+319delinsTG
ENST00000697303.1:c.*1838+318_*1838+319delinsTG	ENSP00000513239.1:n.*1838+318_*1838+319delinsTG
ENST00000697304.1:c.1922+318_1922+319delinsTG	ENSP00000513240.1:n.1922+318_1922+319delinsTG
ENST00000697305.1:n.2501+318_2501+319delinsTG
ENST00000697306.1:c.*2785+318_*2785+319delinsTG	ENSP00000513241.1:n.*2785+318_*2785+319delinsTG
ENST00000697307.1:c.2009+318_2009+319delinsTG	ENSP00000513242.1:n.2009+318_2009+319delinsTG
ENST00000697308.1:c.2165+318_2165+319delinsTG	ENSP00000513243.1:n.2165+318_2165+319delinsTG
ENST00000697309.1:c.2185-1096_2185-1095delinsTG	ENSP00000513244.1:n.2185-1096_2185-1095delinsTG
ENST00000697310.1:c.2234+318_2234+319delinsTG	ENSP00000513245.1:n.2234+318_2234+319delinsTG
ENST00000697311.1:c.*499+318_*499+319delinsTG	ENSP00000513246.1:n.*499+318_*499+319delinsTG
ENST00000697312.1:c.*1687+318_*1687+319delinsTG	ENSP00000513247.1:n.*1687+318_*1687+319delinsTG
ENST00000697313.1:n.2688-1096_2688-1095delinsTG
ENST00000697314.1:n.3637-1096_3637-1095delinsTG
ENST00000697315.1:c.*138+318_*138+319delinsTG	ENSP00000513248.1:n.*138+318_*138+319delinsTG
ENST00000697316.1:n.2673_2674delinsTG
ENST00000265433.8:c.2234+318_2234+319delinsTG MANE Select	ENSP00000265433.4:n.2234+318_2234+319delinsTG
ENST00000265433.7:c.2234+318_2234+319delinsTG	ENSP00000265433.3:n.2234+318_2234+319delinsTG
ENST00000396252.6:c.*2107+318_*2107+319delinsTG	ENSP00000379551.2:n.*2107+318_*2107+319delinsTG
ENST00000409330.5:c.1988+318_1988+319delinsTG	ENSP00000386924.1:n.1988+318_1988+319delinsTG
ENST00000474821.1:n.322+318_322+319delinsTG
ENST00000613033.1:c.344+318_344+319delinsTG	ENSP00000484487.1:n.344+318_344+319delinsTG
NM_001024688.2:c.1988+318_1988+319delinsTG	NP_001019859.1:n.1988+318_1988+319delinsTG
NM_002485.4:c.2234+318_2234+319delinsTG , LRG_158t1:c.2234+318_2234+319delinsTG	NP_002476.2:n.2234+318_2234+319delinsTG
XM_011517044.1:c.2210+318_2210+319delinsTG	XP_011515346.1:n.2210+318_2210+319delinsTG
XM_011517045.1:c.1988+318_1988+319delinsTG	XP_011515347.1:n.1988+318_1988+319delinsTG
XM_017013460.1:c.1355+318_1355+319delinsTG	XP_016868949.1:n.1355+318_1355+319delinsTG
XM_017013462.2:c.1355+318_1355+319delinsTG	XP_016868951.1:n.1355+318_1355+319delinsTG
XM_024447163.1:c.1988+318_1988+319delinsTG	XP_024302931.1:n.1988+318_1988+319delinsTG
XM_024447164.1:c.1988+318_1988+319delinsTG	XP_024302932.1:n.1988+318_1988+319delinsTG
XM_024447165.1:c.1355+318_1355+319delinsTG	XP_024302933.1:n.1355+318_1355+319delinsTG
NM_002485.5:c.2234+318_2234+319delinsTG MANE Select	NP_002476.2:n.2234+318_2234+319delinsTG
NM_001024688.3:c.1988+318_1988+319delinsTG	NP_001019859.1:n.1988+318_1988+319delinsTG