Canonical Allele Identifier: CA181275348

Gene: NBN

Linked Data

• dbSNP Id: rs914211423
• gnomAD v2: 8-90959992-TGATGA-T
• gnomAD v3: 8-89947764-TGATGA-T
• gnomAD v4: 8-89947764-TGATGA-T
• MyVariant Identifiers: chr8:g.90959993_90959997del (hg19) ; chr8:g.89947765_89947769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947770_89947774del , CM000670.2:g.89947770_89947774del	GRCh38
NC_000008.10:g.90959998_90960002del , CM000670.1:g.90959998_90960002del	GRCh37
NC_000008.9:g.91029174_91029178del	NCBI36
NG_008860.1:g.41903_41907del , LRG_158:g.41903_41907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3216+55_3216+59del
ENST00000517337.2:c.1668+55_1668+59del	ENSP00000429971.2:n.1668+55_1668+59del
ENST00000523444.2:c.1668+55_1668+59del	ENSP00000428252.2:n.1668+55_1668+59del
ENST00000697292.1:c.1914+55_1914+59del	ENSP00000513229.1:n.1914+55_1914+59del
ENST00000697293.1:c.1914+55_1914+59del	ENSP00000513230.1:n.1914+55_1914+59del
ENST00000697294.1:c.*1525+55_*1525+59del	ENSP00000513231.1:n.*1525+55_*1525+59del
ENST00000697295.1:c.*1223+55_*1223+59del	ENSP00000513232.1:n.*1223+55_*1223+59del
ENST00000697296.1:c.*1582+55_*1582+59del	ENSP00000513233.1:n.*1582+55_*1582+59del
ENST00000697297.1:n.3699+55_3699+59del
ENST00000697298.1:c.1668+55_1668+59del	ENSP00000513234.1:n.1668+55_1668+59del
ENST00000697299.1:c.1668+55_1668+59del	ENSP00000513235.1:n.1668+55_1668+59del
ENST00000697300.1:c.*1518+55_*1518+59del	ENSP00000513236.1:n.*1518+55_*1518+59del
ENST00000697301.1:c.*1435+55_*1435+59del	ENSP00000513237.1:n.*1435+55_*1435+59del
ENST00000697302.1:c.*1435+55_*1435+59del	ENSP00000513238.1:n.*1435+55_*1435+59del
ENST00000697303.1:c.*1518+55_*1518+59del	ENSP00000513239.1:n.*1518+55_*1518+59del
ENST00000697304.1:c.1602+55_1602+59del	ENSP00000513240.1:n.1602+55_1602+59del
ENST00000697306.1:c.*992_*996del	ENSP00000513241.1:n.*992_*996del
ENST00000697307.1:c.1846-4403_1846-4399del	ENSP00000513242.1:n.1846-4403_1846-4399de...
ENST00000697308.1:c.1846-1474_1846-1470del	ENSP00000513243.1:n.1846-1474_1846-1470de...
ENST00000697309.1:c.1914+55_1914+59del	ENSP00000513244.1:n.1914+55_1914+59del
ENST00000697310.1:c.1914+55_1914+59del	ENSP00000513245.1:n.1914+55_1914+59del
ENST00000697311.1:c.1914+55_1914+59del	ENSP00000513246.1:n.1914+55_1914+59del
ENST00000697312.1:c.*1312+55_*1312+59del	ENSP00000513247.1:n.*1312+55_*1312+59del
ENST00000697313.1:n.2688-12157_2688-12153del
ENST00000697314.1:n.3636+5475_3636+5479del
ENST00000697315.1:c.1914+55_1914+59del	ENSP00000513248.1:n.1914+55_1914+59del
ENST00000697316.1:n.2035+55_2035+59del
ENST00000697317.1:n.2005+74_2005+78del
ENST00000265433.8:c.1914+55_1914+59del MANE Select	ENSP00000265433.4:n.1914+55_1914+59del
ENST00000265433.7:c.1914+55_1914+59del	ENSP00000265433.3:n.1914+55_1914+59del
ENST00000396252.6:c.*1787+55_*1787+59del	ENSP00000379551.2:n.*1787+55_*1787+59del
ENST00000409330.5:c.1668+55_1668+59del	ENSP00000386924.1:n.1668+55_1668+59del
ENST00000613033.1:c.180+55_180+59del	ENSP00000484487.1:n.180+55_180+59del
NM_001024688.2:c.1668+55_1668+59del	NP_001019859.1:n.1668+55_1668+59del
NM_002485.4:c.1914+55_1914+59del , LRG_158t1:c.1914+55_1914+59del	NP_002476.2:n.1914+55_1914+59del
XM_011517044.1:c.1890+55_1890+59del	XP_011515346.1:n.1890+55_1890+59del
XM_011517045.1:c.1668+55_1668+59del	XP_011515347.1:n.1668+55_1668+59del
XR_928335.1:n.2053+55_2053+59del
XM_017013460.1:c.1035+55_1035+59del	XP_016868949.1:n.1035+55_1035+59del
XM_017013462.2:c.1035+55_1035+59del	XP_016868951.1:n.1035+55_1035+59del
XM_024447163.1:c.1668+55_1668+59del	XP_024302931.1:n.1668+55_1668+59del
XM_024447164.1:c.1668+55_1668+59del	XP_024302932.1:n.1668+55_1668+59del
XM_024447165.1:c.1035+55_1035+59del	XP_024302933.1:n.1035+55_1035+59del
NM_002485.5:c.1914+55_1914+59del MANE Select	NP_002476.2:n.1914+55_1914+59del
NM_001024688.3:c.1668+55_1668+59del	NP_001019859.1:n.1668+55_1668+59del