Canonical Allele Identifier: CA4803094

Gene: NBN

Linked Data

• ClinVar Variation Id: 1067846
• ClinVar RCV Id: RCV001379215 ; RCV002456595
• dbSNP Id: rs781710700
• ExAC: 8:90996742 TCTGCCCTTACCTC / T
• gnomAD v2: 8-90996742-TCTGCCCTTACCTC-T
• gnomAD v3: 8-89984514-TCTGCCCTTACCTC-T
• gnomAD v4: 8-89984514-TCTGCCCTTACCTC-T
• MyVariant Identifiers: chr8:g.90996743_90996755del (hg19) ; chr8:g.89984515_89984527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984520_89984532del , CM000670.2:g.89984520_89984532del	GRCh38
NC_000008.10:g.90996748_90996760del , CM000670.1:g.90996748_90996760del	GRCh37
NC_000008.9:g.91065924_91065936del	NCBI36
NG_008860.1:g.5145_5157del , LRG_158:g.5145_5157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.139_141+10del
ENST00000523444.2:c.-262_-260+10del
ENST00000697292.1:c.35_37+10del
ENST00000697293.1:c.35_37+10del
ENST00000697294.1:c.35_37+10del
ENST00000697295.1:c.35_37+10del
ENST00000697296.1:c.35_37+10del
ENST00000697297.1:n.141_143+10del
ENST00000697298.1:c.-445_-443+10del
ENST00000697299.1:c.-78_-76+10del
ENST00000697300.1:c.-262_-260+10del
ENST00000697301.1:c.-262_-260+10del
ENST00000697302.1:c.35_37+10del
ENST00000697303.1:c.35_37+10del
ENST00000697304.1:c.35_37+10del
ENST00000697306.1:c.35_37+10del
ENST00000697307.1:c.35_37+10del
ENST00000697308.1:c.35_37+10del
ENST00000697309.1:c.35_37+10del
ENST00000697310.1:c.35_37+10del
ENST00000697311.1:c.35_37+10del
ENST00000697312.1:c.35_37+10del
ENST00000697313.1:n.147_149+10del
ENST00000697314.1:n.147_149+10del
ENST00000697315.1:c.35_37+10del
ENST00000697316.1:n.156_158+10del
ENST00000697317.1:n.145_147+10del
ENST00000697318.1:n.147_149+10del
ENST00000265433.8:c.35_37+10del
ENST00000265433.7:c.35_37+10del
ENST00000396252.6:c.35_37+10del
ENST00000494804.1:n.139_141+10del
ENST00000519426.5:c.35_37+10del
ENST00000523444.1:c.35_37+10del
NM_001024688.2:c.-262_-260+10del
NM_002485.4:c.35_37+10del , LRG_158t1:c.35_37+10del
XM_011517046.1:c.35_37+10del
XR_928335.1:n.172_174+10del
XM_017013460.1:c.-985_-983+10del
XM_017013462.2:c.-791_-789+10del
XM_024447165.1:c.-935_-933+10del
NM_002485.5:c.35_37+10del
NM_001024688.3:c.-262_-260+10del