Canonical Allele Identifier: CA891842831

Gene: NBN

Linked Data

• ClinVar Variation Id: 570009
• ClinVar RCV Id: RCV000690766 ; RCV002424617
• dbSNP Id: rs1563497529
• MyVariant Identifiers: chr8:g.90949250_90949262del (hg19) ; chr8:g.89937022_89937034del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937023_89937035del , CM000670.2:g.89937023_89937035del	GRCh38
NC_000008.10:g.90949251_90949263del , CM000670.1:g.90949251_90949263del	GRCh37
NC_000008.9:g.91018427_91018439del	NCBI36
NG_008860.1:g.52638_52650del , LRG_158:g.52638_52650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3646_3654+4del
ENST00000494804.2:n.3528_3536+4del
ENST00000517337.2:c.1980_1988+4del
ENST00000523444.2:c.1980_1988+4del
ENST00000697292.1:c.2226_2234+4del
ENST00000697293.1:c.2277_2285+4del
ENST00000697294.1:c.*1837_*1845+4del
ENST00000697295.1:c.*1535_*1543+4del
ENST00000697296.1:c.*1894_*1902+4del
ENST00000697297.1:n.4011_4019+4del
ENST00000697298.1:c.1980_1988+4del
ENST00000697299.1:c.1980_1988+4del
ENST00000697300.1:c.*1830_*1838+4del
ENST00000697301.1:c.*1747_*1755+4del
ENST00000697302.1:c.*1747_*1755+4del
ENST00000697303.1:c.*1830_*1838+4del
ENST00000697304.1:c.1914_1922+4del
ENST00000697305.1:n.2493_2501+4del
ENST00000697306.1:c.*2777_*2785+4del
ENST00000697307.1:c.2001_2009+4del
ENST00000697308.1:c.2157_2165+4del
ENST00000697309.1:c.2185-1422_2185-1410del	ENSP00000513244.1:n.2185-1422_2185-1410del
ENST00000697310.1:c.2226_2234+4del
ENST00000697311.1:c.*491_*499+4del
ENST00000697312.1:c.*1679_*1687+4del
ENST00000697313.1:n.2688-1422_2688-1410del
ENST00000697314.1:n.3637-1422_3637-1410del
ENST00000697315.1:c.*130_*138+4del
ENST00000697316.1:n.2347_2359del
ENST00000265433.8:c.2226_2234+4del
ENST00000265433.7:c.2226_2234+4del
ENST00000396252.6:c.*2099_*2107+4del
ENST00000409330.5:c.1980_1988+4del
ENST00000474821.1:n.314_322+4del
ENST00000613033.1:c.336_344+4del
NM_001024688.2:c.1980_1988+4del
NM_002485.4:c.2226_2234+4del , LRG_158t1:c.2226_2234+4del
XM_011517044.1:c.2202_2210+4del
XM_011517045.1:c.1980_1988+4del
XM_017013460.1:c.1347_1355+4del
XM_017013462.2:c.1347_1355+4del
XM_024447163.1:c.1980_1988+4del
XM_024447164.1:c.1980_1988+4del
XM_024447165.1:c.1347_1355+4del
NM_002485.5:c.2226_2234+4del
NM_001024688.3:c.1980_1988+4del