Canonical Allele Identifier: CA2687853001

Gene: NBN

Linked Data

• gnomAD v4: 8-89937162-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937166_89937167del , CM000670.2:g.89937166_89937167del	GRCh38
NC_000008.10:g.90949394_90949395del , CM000670.1:g.90949394_90949395del	GRCh37
NC_000008.9:g.91018570_91018571del	NCBI36
NG_008860.1:g.52508_52509del , LRG_158:g.52508_52509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3516_3517del
ENST00000494804.2:n.3487-89_3487-88del
ENST00000517337.2:c.1939-89_1939-88del	ENSP00000429971.2:n.1939-89_1939-88del
ENST00000523444.2:c.1939-89_1939-88del	ENSP00000428252.2:n.1939-89_1939-88del
ENST00000697292.1:c.2185-89_2185-88del	ENSP00000513229.1:n.2185-89_2185-88del
ENST00000697293.1:c.2236-89_2236-88del	ENSP00000513230.1:n.2236-89_2236-88del
ENST00000697294.1:c.*1796-89_*1796-88del	ENSP00000513231.1:n.*1796-89_*1796-88del
ENST00000697295.1:c.*1494-89_*1494-88del	ENSP00000513232.1:n.*1494-89_*1494-88del
ENST00000697296.1:c.*1853-89_*1853-88del	ENSP00000513233.1:n.*1853-89_*1853-88del
ENST00000697297.1:n.3970-89_3970-88del
ENST00000697298.1:c.1939-89_1939-88del	ENSP00000513234.1:n.1939-89_1939-88del
ENST00000697299.1:c.1939-89_1939-88del	ENSP00000513235.1:n.1939-89_1939-88del
ENST00000697300.1:c.*1789-89_*1789-88del	ENSP00000513236.1:n.*1789-89_*1789-88del
ENST00000697301.1:c.*1706-89_*1706-88del	ENSP00000513237.1:n.*1706-89_*1706-88del
ENST00000697302.1:c.*1706-89_*1706-88del	ENSP00000513238.1:n.*1706-89_*1706-88del
ENST00000697303.1:c.*1789-89_*1789-88del	ENSP00000513239.1:n.*1789-89_*1789-88del
ENST00000697304.1:c.1873-89_1873-88del	ENSP00000513240.1:n.1873-89_1873-88del
ENST00000697305.1:n.2452-89_2452-88del
ENST00000697306.1:c.*2736-89_*2736-88del	ENSP00000513241.1:n.*2736-89_*2736-88del
ENST00000697307.1:c.1960-89_1960-88del	ENSP00000513242.1:n.1960-89_1960-88del
ENST00000697308.1:c.2116-89_2116-88del	ENSP00000513243.1:n.2116-89_2116-88del
ENST00000697309.1:c.2185-1552_2185-1551del	ENSP00000513244.1:n.2185-1552_2185-1551del
ENST00000697310.1:c.2185-89_2185-88del	ENSP00000513245.1:n.2185-89_2185-88del
ENST00000697311.1:c.*450-89_*450-88del	ENSP00000513246.1:n.*450-89_*450-88del
ENST00000697312.1:c.*1638-89_*1638-88del	ENSP00000513247.1:n.*1638-89_*1638-88del
ENST00000697313.1:n.2688-1552_2688-1551del
ENST00000697314.1:n.3637-1552_3637-1551del
ENST00000697315.1:c.*89-89_*89-88del	ENSP00000513248.1:n.*89-89_*89-88del
ENST00000697316.1:n.2306-89_2306-88del
ENST00000265433.8:c.2185-89_2185-88del MANE Select	ENSP00000265433.4:n.2185-89_2185-88del
ENST00000265433.7:c.2185-89_2185-88del	ENSP00000265433.3:n.2185-89_2185-88del
ENST00000396252.6:c.*2058-89_*2058-88del	ENSP00000379551.2:n.*2058-89_*2058-88del
ENST00000409330.5:c.1939-89_1939-88del	ENSP00000386924.1:n.1939-89_1939-88del
ENST00000474821.1:n.184_185del
ENST00000613033.1:c.295-89_295-88del	ENSP00000484487.1:n.295-89_295-88del
NM_001024688.2:c.1939-89_1939-88del	NP_001019859.1:n.1939-89_1939-88del
NM_002485.4:c.2185-89_2185-88del , LRG_158t1:c.2185-89_2185-88del	NP_002476.2:n.2185-89_2185-88del
XM_011517044.1:c.2161-89_2161-88del	XP_011515346.1:n.2161-89_2161-88del
XM_011517045.1:c.1939-89_1939-88del	XP_011515347.1:n.1939-89_1939-88del
XM_017013460.1:c.1306-89_1306-88del	XP_016868949.1:n.1306-89_1306-88del
XM_017013462.2:c.1306-89_1306-88del	XP_016868951.1:n.1306-89_1306-88del
XM_024447163.1:c.1939-89_1939-88del	XP_024302931.1:n.1939-89_1939-88del
XM_024447164.1:c.1939-89_1939-88del	XP_024302932.1:n.1939-89_1939-88del
XM_024447165.1:c.1306-89_1306-88del	XP_024302933.1:n.1306-89_1306-88del
NM_002485.5:c.2185-89_2185-88del MANE Select	NP_002476.2:n.2185-89_2185-88del
NM_001024688.3:c.1939-89_1939-88del	NP_001019859.1:n.1939-89_1939-88del