Canonical Allele Identifier: CA856707361

Gene: NBN

Linked Data

• dbSNP Id: rs531725950
• gnomAD v3: 8-89947656-AAATAATAAT-A
• gnomAD v4: 8-89947656-AAATAATAAT-A
• MyVariant Identifiers: chr8:g.90959885_90959893del (hg19) ; chr8:g.89947657_89947665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947667_89947675del , CM000670.2:g.89947667_89947675del	GRCh38
NC_000008.10:g.90959895_90959903del , CM000670.1:g.90959895_90959903del	GRCh37
NC_000008.9:g.91029071_91029079del	NCBI36
NG_008860.1:g.42007_42015del , LRG_158:g.42007_42015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216+159_3216+167del
ENST00000517337.2:c.1668+159_1668+167del	ENSP00000429971.2:n.1668+159_1668+167del
ENST00000523444.2:c.1668+159_1668+167del	ENSP00000428252.2:n.1668+159_1668+167del
ENST00000697292.1:c.1914+159_1914+167del	ENSP00000513229.1:n.1914+159_1914+167del
ENST00000697293.1:c.1914+159_1914+167del	ENSP00000513230.1:n.1914+159_1914+167del
ENST00000697294.1:c.*1525+159_*1525+167del	ENSP00000513231.1:n.*1525+159_*1525+167del
ENST00000697295.1:c.*1223+159_*1223+167del	ENSP00000513232.1:n.*1223+159_*1223+167del
ENST00000697296.1:c.*1582+159_*1582+167del	ENSP00000513233.1:n.*1582+159_*1582+167del
ENST00000697297.1:n.3699+159_3699+167del
ENST00000697298.1:c.1668+159_1668+167del	ENSP00000513234.1:n.1668+159_1668+167del
ENST00000697299.1:c.1668+159_1668+167del	ENSP00000513235.1:n.1668+159_1668+167del
ENST00000697300.1:c.*1518+159_*1518+167del	ENSP00000513236.1:n.*1518+159_*1518+167del
ENST00000697301.1:c.*1435+159_*1435+167del	ENSP00000513237.1:n.*1435+159_*1435+167del
ENST00000697302.1:c.*1435+159_*1435+167del	ENSP00000513238.1:n.*1435+159_*1435+167del
ENST00000697303.1:c.*1518+159_*1518+167del	ENSP00000513239.1:n.*1518+159_*1518+167del
ENST00000697304.1:c.1602+159_1602+167del	ENSP00000513240.1:n.1602+159_1602+167del
ENST00000697306.1:c.*1096_*1104del	ENSP00000513241.1:n.*1096_*1104del
ENST00000697307.1:c.1846-4299_1846-4291del	ENSP00000513242.1:n.1846-4299_1846-4291del
ENST00000697308.1:c.1846-1370_1846-1362del	ENSP00000513243.1:n.1846-1370_1846-1362del
ENST00000697309.1:c.1914+159_1914+167del	ENSP00000513244.1:n.1914+159_1914+167del
ENST00000697310.1:c.1914+159_1914+167del	ENSP00000513245.1:n.1914+159_1914+167del
ENST00000697311.1:c.1914+159_1914+167del	ENSP00000513246.1:n.1914+159_1914+167del
ENST00000697312.1:c.*1312+159_*1312+167del	ENSP00000513247.1:n.*1312+159_*1312+167del
ENST00000697313.1:n.2688-12053_2688-12045del
ENST00000697314.1:n.3636+5579_3636+5587del
ENST00000697315.1:c.1914+159_1914+167del	ENSP00000513248.1:n.1914+159_1914+167del
ENST00000697316.1:n.2035+159_2035+167del
ENST00000697317.1:n.2005+178_2005+186del
ENST00000265433.8:c.1914+159_1914+167del MANE Select	ENSP00000265433.4:n.1914+159_1914+167del
ENST00000265433.7:c.1914+159_1914+167del	ENSP00000265433.3:n.1914+159_1914+167del
ENST00000396252.6:c.*1787+159_*1787+167del	ENSP00000379551.2:n.*1787+159_*1787+167del
ENST00000409330.5:c.1668+159_1668+167del	ENSP00000386924.1:n.1668+159_1668+167del
ENST00000613033.1:c.180+159_180+167del	ENSP00000484487.1:n.180+159_180+167del
NM_001024688.2:c.1668+159_1668+167del	NP_001019859.1:n.1668+159_1668+167del
NM_002485.4:c.1914+159_1914+167del , LRG_158t1:c.1914+159_1914+167del	NP_002476.2:n.1914+159_1914+167del
XM_011517044.1:c.1890+159_1890+167del	XP_011515346.1:n.1890+159_1890+167del
XM_011517045.1:c.1668+159_1668+167del	XP_011515347.1:n.1668+159_1668+167del
XR_928335.1:n.2053+159_2053+167del
XM_017013460.1:c.1035+159_1035+167del	XP_016868949.1:n.1035+159_1035+167del
XM_017013462.2:c.1035+159_1035+167del	XP_016868951.1:n.1035+159_1035+167del
XM_024447163.1:c.1668+159_1668+167del	XP_024302931.1:n.1668+159_1668+167del
XM_024447164.1:c.1668+159_1668+167del	XP_024302932.1:n.1668+159_1668+167del
XM_024447165.1:c.1035+159_1035+167del	XP_024302933.1:n.1035+159_1035+167del
NM_002485.5:c.1914+159_1914+167del MANE Select	NP_002476.2:n.1914+159_1914+167del
NM_001024688.3:c.1668+159_1668+167del	NP_001019859.1:n.1668+159_1668+167del