Canonical Allele Identifier: CA2687854464

Gene: NBN

Linked Data

• gnomAD v4: 8-89953740-CTAAGTAACCATTTAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953742_89953757del , CM000670.2:g.89953742_89953757del	GRCh38
NC_000008.10:g.90965970_90965985del , CM000670.1:g.90965970_90965985del	GRCh37
NC_000008.9:g.91035146_91035161del	NCBI36
NG_008860.1:g.35916_35931del , LRG_158:g.35916_35931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-65_2700-50del
ENST00000517337.2:c.1152-65_1152-50del	ENSP00000429971.2:n.1152-65_1152-50del
ENST00000523444.2:c.1152-65_1152-50del	ENSP00000428252.2:n.1152-65_1152-50del
ENST00000697292.1:c.1398-65_1398-50del	ENSP00000513229.1:n.1398-65_1398-50del
ENST00000697293.1:c.1398-65_1398-50del	ENSP00000513230.1:n.1398-65_1398-50del
ENST00000697294.1:c.*1009-65_*1009-50del	ENSP00000513231.1:n.*1009-65_*1009-50del
ENST00000697295.1:c.*707-65_*707-50del	ENSP00000513232.1:n.*707-65_*707-50del
ENST00000697296.1:c.*1066-65_*1066-50del	ENSP00000513233.1:n.*1066-65_*1066-50del
ENST00000697297.1:n.3183-65_3183-50del
ENST00000697298.1:c.1152-65_1152-50del	ENSP00000513234.1:n.1152-65_1152-50del
ENST00000697299.1:c.1152-65_1152-50del	ENSP00000513235.1:n.1152-65_1152-50del
ENST00000697300.1:c.*1002-65_*1002-50del	ENSP00000513236.1:n.*1002-65_*1002-50del
ENST00000697301.1:c.*919-65_*919-50del	ENSP00000513237.1:n.*919-65_*919-50del
ENST00000697302.1:c.*919-65_*919-50del	ENSP00000513238.1:n.*919-65_*919-50del
ENST00000697303.1:c.*1002-65_*1002-50del	ENSP00000513239.1:n.*1002-65_*1002-50del
ENST00000697304.1:c.1086-65_1086-50del	ENSP00000513240.1:n.1086-65_1086-50del
ENST00000697306.1:c.*398-65_*398-50del	ENSP00000513241.1:n.*398-65_*398-50del
ENST00000697307.1:c.1398-65_1398-50del	ENSP00000513242.1:n.1398-65_1398-50del
ENST00000697308.1:c.1398-65_1398-50del	ENSP00000513243.1:n.1398-65_1398-50del
ENST00000697309.1:c.1398-65_1398-50del	ENSP00000513244.1:n.1398-65_1398-50del
ENST00000697310.1:c.1398-65_1398-50del	ENSP00000513245.1:n.1398-65_1398-50del
ENST00000697311.1:c.1398-65_1398-50del	ENSP00000513246.1:n.1398-65_1398-50del
ENST00000697312.1:c.*796-65_*796-50del	ENSP00000513247.1:n.*796-65_*796-50del
ENST00000697313.1:n.2687+16608_2687+16623del
ENST00000697314.1:n.3189-65_3189-50del
ENST00000697315.1:c.1398-65_1398-50del	ENSP00000513248.1:n.1398-65_1398-50del
ENST00000697316.1:n.1519-65_1519-50del
ENST00000697317.1:n.1508-65_1508-50del
ENST00000697318.1:n.1510-65_1510-50del
ENST00000265433.8:c.1398-65_1398-50del MANE Select	ENSP00000265433.4:n.1398-65_1398-50del
ENST00000265433.7:c.1398-65_1398-50del	ENSP00000265433.3:n.1398-65_1398-50del
ENST00000396252.6:c.*1271-65_*1271-50del	ENSP00000379551.2:n.*1271-65_*1271-50del
ENST00000409330.5:c.1152-65_1152-50del	ENSP00000386924.1:n.1152-65_1152-50del
NM_001024688.2:c.1152-65_1152-50del	NP_001019859.1:n.1152-65_1152-50del
NM_002485.4:c.1398-65_1398-50del , LRG_158t1:c.1398-65_1398-50del	NP_002476.2:n.1398-65_1398-50del
XM_011517044.1:c.1374-65_1374-50del	XP_011515346.1:n.1374-65_1374-50del
XM_011517045.1:c.1152-65_1152-50del	XP_011515347.1:n.1152-65_1152-50del
XM_011517046.1:c.1396-62_1396-47del	XP_011515348.1:n.1396-62_1396-47del
XR_928335.1:n.1534-62_1534-47del
XM_017013460.1:c.519-65_519-50del	XP_016868949.1:n.519-65_519-50del
XM_017013462.2:c.519-65_519-50del	XP_016868951.1:n.519-65_519-50del
XM_024447163.1:c.1152-65_1152-50del	XP_024302931.1:n.1152-65_1152-50del
XM_024447164.1:c.1152-65_1152-50del	XP_024302932.1:n.1152-65_1152-50del
XM_024447165.1:c.519-65_519-50del	XP_024302933.1:n.519-65_519-50del
NM_002485.5:c.1398-65_1398-50del MANE Select	NP_002476.2:n.1398-65_1398-50del
NM_001024688.3:c.1152-65_1152-50del	NP_001019859.1:n.1152-65_1152-50del