Canonical Allele Identifier: CA2579201604

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946317_89946318del , CM000670.2:g.89946317_89946318del	GRCh38
NC_000008.10:g.90958545_90958546del , CM000670.1:g.90958545_90958546del	GRCh37
NC_000008.9:g.91027721_91027722del	NCBI36
NG_008860.1:g.43355_43356del , LRG_158:g.43355_43356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-22_3217-21del
ENST00000517337.2:c.1669-22_1669-21del	ENSP00000429971.2:n.1669-22_1669-21del
ENST00000523444.2:c.1669-22_1669-21del	ENSP00000428252.2:n.1669-22_1669-21del
ENST00000697292.1:c.1915-22_1915-21del	ENSP00000513229.1:n.1915-22_1915-21del
ENST00000697293.1:c.1915-22_1915-21del	ENSP00000513230.1:n.1915-22_1915-21del
ENST00000697294.1:c.*1526-22_*1526-21del	ENSP00000513231.1:n.*1526-22_*1526-21del
ENST00000697295.1:c.*1224-22_*1224-21del	ENSP00000513232.1:n.*1224-22_*1224-21del
ENST00000697296.1:c.*1583-22_*1583-21del	ENSP00000513233.1:n.*1583-22_*1583-21del
ENST00000697297.1:n.3700-22_3700-21del
ENST00000697298.1:c.1669-22_1669-21del	ENSP00000513234.1:n.1669-22_1669-21del
ENST00000697299.1:c.1669-22_1669-21del	ENSP00000513235.1:n.1669-22_1669-21del
ENST00000697300.1:c.*1519-22_*1519-21del	ENSP00000513236.1:n.*1519-22_*1519-21del
ENST00000697301.1:c.*1436-22_*1436-21del	ENSP00000513237.1:n.*1436-22_*1436-21del
ENST00000697302.1:c.*1436-22_*1436-21del	ENSP00000513238.1:n.*1436-22_*1436-21del
ENST00000697303.1:c.*1519-22_*1519-21del	ENSP00000513239.1:n.*1519-22_*1519-21del
ENST00000697304.1:c.1603-22_1603-21del	ENSP00000513240.1:n.1603-22_1603-21del
ENST00000697306.1:c.*2444_*2445del	ENSP00000513241.1:n.*2444_*2445del
ENST00000697307.1:c.1846-2951_1846-2950del	ENSP00000513242.1:n.1846-2951_1846-2950del
ENST00000697308.1:c.1846-22_1846-21del	ENSP00000513243.1:n.1846-22_1846-21del
ENST00000697309.1:c.1915-22_1915-21del	ENSP00000513244.1:n.1915-22_1915-21del
ENST00000697310.1:c.1915-22_1915-21del	ENSP00000513245.1:n.1915-22_1915-21del
ENST00000697311.1:c.1915-22_1915-21del	ENSP00000513246.1:n.1915-22_1915-21del
ENST00000697312.1:c.*1313-22_*1313-21del	ENSP00000513247.1:n.*1313-22_*1313-21del
ENST00000697313.1:n.2688-10705_2688-10704del
ENST00000697314.1:n.3636+6927_3636+6928del
ENST00000697315.1:c.1915-22_1915-21del	ENSP00000513248.1:n.1915-22_1915-21del
ENST00000697316.1:n.2036-22_2036-21del
ENST00000697317.1:n.2006-22_2006-21del
ENST00000265433.8:c.1915-22_1915-21del MANE Select	ENSP00000265433.4:n.1915-22_1915-21del
ENST00000265433.7:c.1915-22_1915-21del	ENSP00000265433.3:n.1915-22_1915-21del
ENST00000396252.6:c.*1788-22_*1788-21del	ENSP00000379551.2:n.*1788-22_*1788-21del
ENST00000409330.5:c.1669-22_1669-21del	ENSP00000386924.1:n.1669-22_1669-21del
ENST00000520325.1:n.309_310del
ENST00000613033.1:c.180+1507_180+1508del	ENSP00000484487.1:n.180+1507_180+1508del
NM_001024688.2:c.1669-22_1669-21del	NP_001019859.1:n.1669-22_1669-21del
NM_002485.4:c.1915-22_1915-21del , LRG_158t1:c.1915-22_1915-21del	NP_002476.2:n.1915-22_1915-21del
XM_011517044.1:c.1891-22_1891-21del	XP_011515346.1:n.1891-22_1891-21del
XM_011517045.1:c.1669-22_1669-21del	XP_011515347.1:n.1669-22_1669-21del
XR_928335.1:n.2054-22_2054-21del
XM_017013460.1:c.1036-22_1036-21del	XP_016868949.1:n.1036-22_1036-21del
XM_017013462.2:c.1036-22_1036-21del	XP_016868951.1:n.1036-22_1036-21del
XM_024447163.1:c.1669-22_1669-21del	XP_024302931.1:n.1669-22_1669-21del
XM_024447164.1:c.1669-22_1669-21del	XP_024302932.1:n.1669-22_1669-21del
XM_024447165.1:c.1036-22_1036-21del	XP_024302933.1:n.1036-22_1036-21del
NM_002485.5:c.1915-22_1915-21del MANE Select	NP_002476.2:n.1915-22_1915-21del
NM_001024688.3:c.1669-22_1669-21del	NP_001019859.1:n.1669-22_1669-21del