Canonical Allele Identifier: CA2499219401

Gene: NBN

Linked Data

• ClinVar Variation Id: 1060720
• ClinVar RCV Id: RCV001370186 ; RCV004037459
• dbSNP Id: rs2130739432

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937084_89937100del , CM000670.2:g.89937084_89937100del	GRCh38
NC_000008.10:g.90949312_90949328del , CM000670.1:g.90949312_90949328del	GRCh37
NC_000008.9:g.91018488_91018504del	NCBI36
NG_008860.1:g.52577_52593del , LRG_158:g.52577_52593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3585_3601del
ENST00000494804.2:n.3487-20_3487-4del
ENST00000517337.2:c.1939-20_1939-4del	ENSP00000429971.2:n.1939-20_1939-4del
ENST00000523444.2:c.1939-20_1939-4del	ENSP00000428252.2:n.1939-20_1939-4del
ENST00000697292.1:c.2185-20_2185-4del	ENSP00000513229.1:n.2185-20_2185-4del
ENST00000697293.1:c.2236-20_2236-4del	ENSP00000513230.1:n.2236-20_2236-4del
ENST00000697294.1:c.*1796-20_*1796-4del	ENSP00000513231.1:n.*1796-20_*1796-4del
ENST00000697295.1:c.*1494-20_*1494-4del	ENSP00000513232.1:n.*1494-20_*1494-4del
ENST00000697296.1:c.*1853-20_*1853-4del	ENSP00000513233.1:n.*1853-20_*1853-4del
ENST00000697297.1:n.3970-20_3970-4del
ENST00000697298.1:c.1939-20_1939-4del	ENSP00000513234.1:n.1939-20_1939-4del
ENST00000697299.1:c.1939-20_1939-4del	ENSP00000513235.1:n.1939-20_1939-4del
ENST00000697300.1:c.*1789-20_*1789-4del	ENSP00000513236.1:n.*1789-20_*1789-4del
ENST00000697301.1:c.*1706-20_*1706-4del	ENSP00000513237.1:n.*1706-20_*1706-4del
ENST00000697302.1:c.*1706-20_*1706-4del	ENSP00000513238.1:n.*1706-20_*1706-4del
ENST00000697303.1:c.*1789-20_*1789-4del	ENSP00000513239.1:n.*1789-20_*1789-4del
ENST00000697304.1:c.1873-20_1873-4del	ENSP00000513240.1:n.1873-20_1873-4del
ENST00000697305.1:n.2452-20_2452-4del
ENST00000697306.1:c.*2736-20_*2736-4del	ENSP00000513241.1:n.*2736-20_*2736-4del
ENST00000697307.1:c.1960-20_1960-4del	ENSP00000513242.1:n.1960-20_1960-4del
ENST00000697308.1:c.2116-20_2116-4del	ENSP00000513243.1:n.2116-20_2116-4del
ENST00000697309.1:c.2185-1483_2185-1467del	ENSP00000513244.1:n.2185-1483_2185-1467del
ENST00000697310.1:c.2185-20_2185-4del	ENSP00000513245.1:n.2185-20_2185-4del
ENST00000697311.1:c.*450-20_*450-4del	ENSP00000513246.1:n.*450-20_*450-4del
ENST00000697312.1:c.*1638-20_*1638-4del	ENSP00000513247.1:n.*1638-20_*1638-4del
ENST00000697313.1:n.2688-1483_2688-1467del
ENST00000697314.1:n.3637-1483_3637-1467del
ENST00000697315.1:c.*89-20_*89-4del	ENSP00000513248.1:n.*89-20_*89-4del
ENST00000697316.1:n.2306-20_2306-4del
ENST00000265433.8:c.2185-20_2185-4del MANE Select	ENSP00000265433.4:n.2185-20_2185-4del
ENST00000265433.7:c.2185-20_2185-4del	ENSP00000265433.3:n.2185-20_2185-4del
ENST00000396252.6:c.*2058-20_*2058-4del	ENSP00000379551.2:n.*2058-20_*2058-4del
ENST00000409330.5:c.1939-20_1939-4del	ENSP00000386924.1:n.1939-20_1939-4del
ENST00000474821.1:n.253_269del
ENST00000613033.1:c.295-20_295-4del	ENSP00000484487.1:n.295-20_295-4del
NM_001024688.2:c.1939-20_1939-4del	NP_001019859.1:n.1939-20_1939-4del
NM_002485.4:c.2185-20_2185-4del , LRG_158t1:c.2185-20_2185-4del	NP_002476.2:n.2185-20_2185-4del
XM_011517044.1:c.2161-20_2161-4del	XP_011515346.1:n.2161-20_2161-4del
XM_011517045.1:c.1939-20_1939-4del	XP_011515347.1:n.1939-20_1939-4del
XM_017013460.1:c.1306-20_1306-4del	XP_016868949.1:n.1306-20_1306-4del
XM_017013462.2:c.1306-20_1306-4del	XP_016868951.1:n.1306-20_1306-4del
XM_024447163.1:c.1939-20_1939-4del	XP_024302931.1:n.1939-20_1939-4del
XM_024447164.1:c.1939-20_1939-4del	XP_024302932.1:n.1939-20_1939-4del
XM_024447165.1:c.1306-20_1306-4del	XP_024302933.1:n.1306-20_1306-4del
NM_002485.5:c.2185-20_2185-4del MANE Select	NP_002476.2:n.2185-20_2185-4del
NM_001024688.3:c.1939-20_1939-4del	NP_001019859.1:n.1939-20_1939-4del