Canonical Allele Identifier: CA856697287

Gene: NBN

Linked Data

• dbSNP Id: rs1251646125
• MyVariant Identifiers: chr8:g.90990495_90990496del (hg19) ; chr8:g.89978267_89978268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978267_89978268del , CM000670.2:g.89978267_89978268del	GRCh38
NC_000008.10:g.90990495_90990496del , CM000670.1:g.90990495_90990496del	GRCh37
NC_000008.9:g.91059671_91059672del	NCBI36
NG_008860.1:g.11404_11405del , LRG_158:g.11404_11405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1838_1839del
ENST00000517337.2:c.290_291del	ENSP00000429971.2:p.Glu97ValfsTer6
ENST00000523444.2:c.290_291del	ENSP00000428252.2:p.Glu97ValfsTer6
ENST00000697292.1:c.536_537del	ENSP00000513229.1:p.Glu179ValfsTer6
ENST00000697293.1:c.536_537del	ENSP00000513230.1:p.Glu179ValfsTer6
ENST00000697294.1:c.*147_*148del	ENSP00000513231.1:n.*147_*148del
ENST00000697295.1:c.37+6257_37+6258del	ENSP00000513232.1:n.37+6257_37+6258del
ENST00000697296.1:c.*204_*205del	ENSP00000513233.1:n.*204_*205del
ENST00000697297.1:n.2321_2322del
ENST00000697298.1:c.290_291del	ENSP00000513234.1:p.Glu97ValfsTer6
ENST00000697299.1:c.290_291del	ENSP00000513235.1:p.Glu97ValfsTer6
ENST00000697300.1:c.*140_*141del	ENSP00000513236.1:n.*140_*141del
ENST00000697301.1:c.*57_*58del	ENSP00000513237.1:n.*57_*58del
ENST00000697302.1:c.*57_*58del	ENSP00000513238.1:n.*57_*58del
ENST00000697303.1:c.*140_*141del	ENSP00000513239.1:n.*140_*141del
ENST00000697304.1:c.536_537del	ENSP00000513240.1:p.Glu179ValfsTer6
ENST00000697306.1:c.480+2466_480+2467del	ENSP00000513241.1:n.480+2466_480+2467del
ENST00000697307.1:c.536_537del	ENSP00000513242.1:p.Glu179ValfsTer6
ENST00000697308.1:c.536_537del	ENSP00000513243.1:p.Glu179ValfsTer6
ENST00000697309.1:c.536_537del	ENSP00000513244.1:p.Glu179ValfsTer6
ENST00000697310.1:c.536_537del	ENSP00000513245.1:p.Glu179ValfsTer6
ENST00000697311.1:c.536_537del	ENSP00000513246.1:p.Glu179ValfsTer6
ENST00000697312.1:c.480+2466_480+2467del	ENSP00000513247.1:n.480+2466_480+2467del
ENST00000697313.1:n.2327_2328del
ENST00000697314.1:n.2327_2328del
ENST00000697315.1:c.536_537del	ENSP00000513248.1:p.Glu179ValfsTer6
ENST00000697316.1:n.657_658del
ENST00000697317.1:n.646_647del
ENST00000697318.1:n.648_649del
ENST00000265433.8:c.536_537del MANE Select	ENSP00000265433.4:p.Glu179ValfsTer6
ENST00000265433.7:c.536_537del	ENSP00000265433.3:p.Glu179ValfsTer6
ENST00000396252.6:c.*409_*410del	ENSP00000379551.2:n.*409_*410del
ENST00000409330.5:c.290_291del	ENSP00000386924.1:p.Glu97ValfsTer6
ENST00000517772.5:c.290_291del	ENSP00000428717.1:p.Glu97ValfsTer6
ENST00000519426.5:c.320+3107_320+3108del	ENSP00000430983.1:n.320+3107_320+3108del
NM_001024688.2:c.290_291del	NP_001019859.1:p.Glu97ValfsTer6
NM_002485.4:c.536_537del , LRG_158t1:c.536_537del	NP_002476.2:p.Glu179ValfsTer6
XM_011517044.1:c.512_513del	XP_011515346.1:p.Glu171ValfsTer6
XM_011517045.1:c.290_291del	XP_011515347.1:p.Glu97ValfsTer6
XM_011517046.1:c.536_537del	XP_011515348.1:p.Glu179ValfsTer6
XR_928335.1:n.673_674del
XM_017013460.1:c.-344_-343del	XP_016868949.1:n.-344_-343del
XM_017013462.2:c.-296+2466_-296+2467del	XP_016868951.1:n.-296+2466_-296+2467del
XM_024447163.1:c.290_291del	XP_024302931.1:p.Glu97ValfsTer6
XM_024447164.1:c.290_291del	XP_024302932.1:p.Glu97ValfsTer6
XM_024447165.1:c.-344_-343del	XP_024302933.1:n.-344_-343del
NM_002485.5:c.536_537del MANE Select	NP_002476.2:p.Glu179ValfsTer6
NM_001024688.3:c.290_291del	NP_001019859.1:p.Glu97ValfsTer6