Canonical Allele Identifier: CA2687852939

Gene: NBN

Linked Data

• gnomAD v4: 8-89937117-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937123_89937124del , CM000670.2:g.89937123_89937124del	GRCh38
NC_000008.10:g.90949351_90949352del , CM000670.1:g.90949351_90949352del	GRCh37
NC_000008.9:g.91018527_91018528del	NCBI36
NG_008860.1:g.52553_52554del , LRG_158:g.52553_52554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474821.2:n.3561_3562del
ENST00000494804.2:n.3487-44_3487-43del
ENST00000517337.2:c.1939-44_1939-43del	ENSP00000429971.2:n.1939-44_1939-43del
ENST00000523444.2:c.1939-44_1939-43del	ENSP00000428252.2:n.1939-44_1939-43del
ENST00000697292.1:c.2185-44_2185-43del	ENSP00000513229.1:n.2185-44_2185-43del
ENST00000697293.1:c.2236-44_2236-43del	ENSP00000513230.1:n.2236-44_2236-43del
ENST00000697294.1:c.*1796-44_*1796-43del	ENSP00000513231.1:n.*1796-44_*1796-43del
ENST00000697295.1:c.*1494-44_*1494-43del	ENSP00000513232.1:n.*1494-44_*1494-43del
ENST00000697296.1:c.*1853-44_*1853-43del	ENSP00000513233.1:n.*1853-44_*1853-43del
ENST00000697297.1:n.3970-44_3970-43del
ENST00000697298.1:c.1939-44_1939-43del	ENSP00000513234.1:n.1939-44_1939-43del
ENST00000697299.1:c.1939-44_1939-43del	ENSP00000513235.1:n.1939-44_1939-43del
ENST00000697300.1:c.*1789-44_*1789-43del	ENSP00000513236.1:n.*1789-44_*1789-43del
ENST00000697301.1:c.*1706-44_*1706-43del	ENSP00000513237.1:n.*1706-44_*1706-43del
ENST00000697302.1:c.*1706-44_*1706-43del	ENSP00000513238.1:n.*1706-44_*1706-43del
ENST00000697303.1:c.*1789-44_*1789-43del	ENSP00000513239.1:n.*1789-44_*1789-43del
ENST00000697304.1:c.1873-44_1873-43del	ENSP00000513240.1:n.1873-44_1873-43del
ENST00000697305.1:n.2452-44_2452-43del
ENST00000697306.1:c.*2736-44_*2736-43del	ENSP00000513241.1:n.*2736-44_*2736-43del
ENST00000697307.1:c.1960-44_1960-43del	ENSP00000513242.1:n.1960-44_1960-43del
ENST00000697308.1:c.2116-44_2116-43del	ENSP00000513243.1:n.2116-44_2116-43del
ENST00000697309.1:c.2185-1507_2185-1506del	ENSP00000513244.1:n.2185-1507_2185-1506del
ENST00000697310.1:c.2185-44_2185-43del	ENSP00000513245.1:n.2185-44_2185-43del
ENST00000697311.1:c.*450-44_*450-43del	ENSP00000513246.1:n.*450-44_*450-43del
ENST00000697312.1:c.*1638-44_*1638-43del	ENSP00000513247.1:n.*1638-44_*1638-43del
ENST00000697313.1:n.2688-1507_2688-1506del
ENST00000697314.1:n.3637-1507_3637-1506del
ENST00000697315.1:c.*89-44_*89-43del	ENSP00000513248.1:n.*89-44_*89-43del
ENST00000697316.1:n.2306-44_2306-43del
ENST00000265433.8:c.2185-44_2185-43del MANE Select	ENSP00000265433.4:n.2185-44_2185-43del
ENST00000265433.7:c.2185-44_2185-43del	ENSP00000265433.3:n.2185-44_2185-43del
ENST00000396252.6:c.*2058-44_*2058-43del	ENSP00000379551.2:n.*2058-44_*2058-43del
ENST00000409330.5:c.1939-44_1939-43del	ENSP00000386924.1:n.1939-44_1939-43del
ENST00000474821.1:n.229_230del
ENST00000613033.1:c.295-44_295-43del	ENSP00000484487.1:n.295-44_295-43del
NM_001024688.2:c.1939-44_1939-43del	NP_001019859.1:n.1939-44_1939-43del
NM_002485.4:c.2185-44_2185-43del , LRG_158t1:c.2185-44_2185-43del	NP_002476.2:n.2185-44_2185-43del
XM_011517044.1:c.2161-44_2161-43del	XP_011515346.1:n.2161-44_2161-43del
XM_011517045.1:c.1939-44_1939-43del	XP_011515347.1:n.1939-44_1939-43del
XM_017013460.1:c.1306-44_1306-43del	XP_016868949.1:n.1306-44_1306-43del
XM_017013462.2:c.1306-44_1306-43del	XP_016868951.1:n.1306-44_1306-43del
XM_024447163.1:c.1939-44_1939-43del	XP_024302931.1:n.1939-44_1939-43del
XM_024447164.1:c.1939-44_1939-43del	XP_024302932.1:n.1939-44_1939-43del
XM_024447165.1:c.1306-44_1306-43del	XP_024302933.1:n.1306-44_1306-43del
NM_002485.5:c.2185-44_2185-43del MANE Select	NP_002476.2:n.2185-44_2185-43del
NM_001024688.3:c.1939-44_1939-43del	NP_001019859.1:n.1939-44_1939-43del