Canonical Allele Identifier: CA181268441

Gene: NBN

Linked Data

• dbSNP Id: rs770873119
• gnomAD v3: 8-89936730-CAG-C
• gnomAD v4: 8-89936730-CAG-C
• MyVariant Identifiers: chr8:g.90948959_90948960del (hg19) ; chr8:g.89936731_89936732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89936733_89936734del , CM000670.2:g.89936733_89936734del	GRCh38
NC_000008.10:g.90948961_90948962del , CM000670.1:g.90948961_90948962del	GRCh37
NC_000008.9:g.91018137_91018138del	NCBI36
NG_008860.1:g.52940_52941del , LRG_158:g.52940_52941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3654+294_3654+295del
ENST00000494804.2:n.3536+294_3536+295del
ENST00000517337.2:c.1988+294_1988+295del	ENSP00000429971.2:n.1988+294_1988+295del
ENST00000523444.2:c.1988+294_1988+295del	ENSP00000428252.2:n.1988+294_1988+295del
ENST00000697292.1:c.2234+294_2234+295del	ENSP00000513229.1:n.2234+294_2234+295del
ENST00000697293.1:c.2285+294_2285+295del	ENSP00000513230.1:n.2285+294_2285+295del
ENST00000697294.1:c.*1845+294_*1845+295del	ENSP00000513231.1:n.*1845+294_*1845+295del
ENST00000697295.1:c.*1543+294_*1543+295del	ENSP00000513232.1:n.*1543+294_*1543+295del
ENST00000697296.1:c.*1902+294_*1902+295del	ENSP00000513233.1:n.*1902+294_*1902+295del
ENST00000697297.1:n.4019+294_4019+295del
ENST00000697298.1:c.1988+294_1988+295del	ENSP00000513234.1:n.1988+294_1988+295del
ENST00000697299.1:c.1988+294_1988+295del	ENSP00000513235.1:n.1988+294_1988+295del
ENST00000697300.1:c.*1838+294_*1838+295del	ENSP00000513236.1:n.*1838+294_*1838+295del
ENST00000697301.1:c.*1755+294_*1755+295del	ENSP00000513237.1:n.*1755+294_*1755+295del
ENST00000697302.1:c.*1755+294_*1755+295del	ENSP00000513238.1:n.*1755+294_*1755+295del
ENST00000697303.1:c.*1838+294_*1838+295del	ENSP00000513239.1:n.*1838+294_*1838+295del
ENST00000697304.1:c.1922+294_1922+295del	ENSP00000513240.1:n.1922+294_1922+295del
ENST00000697305.1:n.2501+294_2501+295del
ENST00000697306.1:c.*2785+294_*2785+295del	ENSP00000513241.1:n.*2785+294_*2785+295del
ENST00000697307.1:c.2009+294_2009+295del	ENSP00000513242.1:n.2009+294_2009+295del
ENST00000697308.1:c.2165+294_2165+295del	ENSP00000513243.1:n.2165+294_2165+295del
ENST00000697309.1:c.2185-1120_2185-1119del	ENSP00000513244.1:n.2185-1120_2185-1119del
ENST00000697310.1:c.2234+294_2234+295del	ENSP00000513245.1:n.2234+294_2234+295del
ENST00000697311.1:c.*499+294_*499+295del	ENSP00000513246.1:n.*499+294_*499+295del
ENST00000697312.1:c.*1687+294_*1687+295del	ENSP00000513247.1:n.*1687+294_*1687+295del
ENST00000697313.1:n.2688-1120_2688-1119del
ENST00000697314.1:n.3637-1120_3637-1119del
ENST00000697315.1:c.*138+294_*138+295del	ENSP00000513248.1:n.*138+294_*138+295del
ENST00000697316.1:n.2649_2650del
ENST00000265433.8:c.2234+294_2234+295del MANE Select	ENSP00000265433.4:n.2234+294_2234+295del
ENST00000265433.7:c.2234+294_2234+295del	ENSP00000265433.3:n.2234+294_2234+295del
ENST00000396252.6:c.*2107+294_*2107+295del	ENSP00000379551.2:n.*2107+294_*2107+295del
ENST00000409330.5:c.1988+294_1988+295del	ENSP00000386924.1:n.1988+294_1988+295del
ENST00000474821.1:n.322+294_322+295del
ENST00000613033.1:c.344+294_344+295del	ENSP00000484487.1:n.344+294_344+295del
NM_001024688.2:c.1988+294_1988+295del	NP_001019859.1:n.1988+294_1988+295del
NM_002485.4:c.2234+294_2234+295del , LRG_158t1:c.2234+294_2234+295del	NP_002476.2:n.2234+294_2234+295del
XM_011517044.1:c.2210+294_2210+295del	XP_011515346.1:n.2210+294_2210+295del
XM_011517045.1:c.1988+294_1988+295del	XP_011515347.1:n.1988+294_1988+295del
XM_017013460.1:c.1355+294_1355+295del	XP_016868949.1:n.1355+294_1355+295del
XM_017013462.2:c.1355+294_1355+295del	XP_016868951.1:n.1355+294_1355+295del
XM_024447163.1:c.1988+294_1988+295del	XP_024302931.1:n.1988+294_1988+295del
XM_024447164.1:c.1988+294_1988+295del	XP_024302932.1:n.1988+294_1988+295del
XM_024447165.1:c.1355+294_1355+295del	XP_024302933.1:n.1355+294_1355+295del
NM_002485.5:c.2234+294_2234+295del MANE Select	NP_002476.2:n.2234+294_2234+295del
NM_001024688.3:c.1988+294_1988+295del	NP_001019859.1:n.1988+294_1988+295del