Canonical Allele Identifier: CA2687854460

Gene: NBN

Linked Data

• gnomAD v4: 8-89953733-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953737_89953738del , CM000670.2:g.89953737_89953738del	GRCh38
NC_000008.10:g.90965965_90965966del , CM000670.1:g.90965965_90965966del	GRCh37
NC_000008.9:g.91035141_91035142del	NCBI36
NG_008860.1:g.35937_35938del , LRG_158:g.35937_35938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-44_2700-43del
ENST00000517337.2:c.1152-44_1152-43del	ENSP00000429971.2:n.1152-44_1152-43del
ENST00000523444.2:c.1152-44_1152-43del	ENSP00000428252.2:n.1152-44_1152-43del
ENST00000697292.1:c.1398-44_1398-43del	ENSP00000513229.1:n.1398-44_1398-43del
ENST00000697293.1:c.1398-44_1398-43del	ENSP00000513230.1:n.1398-44_1398-43del
ENST00000697294.1:c.*1009-44_*1009-43del	ENSP00000513231.1:n.*1009-44_*1009-43del
ENST00000697295.1:c.*707-44_*707-43del	ENSP00000513232.1:n.*707-44_*707-43del
ENST00000697296.1:c.*1066-44_*1066-43del	ENSP00000513233.1:n.*1066-44_*1066-43del
ENST00000697297.1:n.3183-44_3183-43del
ENST00000697298.1:c.1152-44_1152-43del	ENSP00000513234.1:n.1152-44_1152-43del
ENST00000697299.1:c.1152-44_1152-43del	ENSP00000513235.1:n.1152-44_1152-43del
ENST00000697300.1:c.*1002-44_*1002-43del	ENSP00000513236.1:n.*1002-44_*1002-43del
ENST00000697301.1:c.*919-44_*919-43del	ENSP00000513237.1:n.*919-44_*919-43del
ENST00000697302.1:c.*919-44_*919-43del	ENSP00000513238.1:n.*919-44_*919-43del
ENST00000697303.1:c.*1002-44_*1002-43del	ENSP00000513239.1:n.*1002-44_*1002-43del
ENST00000697304.1:c.1086-44_1086-43del	ENSP00000513240.1:n.1086-44_1086-43del
ENST00000697306.1:c.*398-44_*398-43del	ENSP00000513241.1:n.*398-44_*398-43del
ENST00000697307.1:c.1398-44_1398-43del	ENSP00000513242.1:n.1398-44_1398-43del
ENST00000697308.1:c.1398-44_1398-43del	ENSP00000513243.1:n.1398-44_1398-43del
ENST00000697309.1:c.1398-44_1398-43del	ENSP00000513244.1:n.1398-44_1398-43del
ENST00000697310.1:c.1398-44_1398-43del	ENSP00000513245.1:n.1398-44_1398-43del
ENST00000697311.1:c.1398-44_1398-43del	ENSP00000513246.1:n.1398-44_1398-43del
ENST00000697312.1:c.*796-44_*796-43del	ENSP00000513247.1:n.*796-44_*796-43del
ENST00000697313.1:n.2687+16629_2687+16630del
ENST00000697314.1:n.3189-44_3189-43del
ENST00000697315.1:c.1398-44_1398-43del	ENSP00000513248.1:n.1398-44_1398-43del
ENST00000697316.1:n.1519-44_1519-43del
ENST00000697317.1:n.1508-44_1508-43del
ENST00000697318.1:n.1510-44_1510-43del
ENST00000265433.8:c.1398-44_1398-43del MANE Select	ENSP00000265433.4:n.1398-44_1398-43del
ENST00000265433.7:c.1398-44_1398-43del	ENSP00000265433.3:n.1398-44_1398-43del
ENST00000396252.6:c.*1271-44_*1271-43del	ENSP00000379551.2:n.*1271-44_*1271-43del
ENST00000409330.5:c.1152-44_1152-43del	ENSP00000386924.1:n.1152-44_1152-43del
NM_001024688.2:c.1152-44_1152-43del	NP_001019859.1:n.1152-44_1152-43del
NM_002485.4:c.1398-44_1398-43del , LRG_158t1:c.1398-44_1398-43del	NP_002476.2:n.1398-44_1398-43del
XM_011517044.1:c.1374-44_1374-43del	XP_011515346.1:n.1374-44_1374-43del
XM_011517045.1:c.1152-44_1152-43del	XP_011515347.1:n.1152-44_1152-43del
XM_011517046.1:c.1396-41_1396-40del	XP_011515348.1:n.1396-41_1396-40del
XR_928335.1:n.1534-41_1534-40del
XM_017013460.1:c.519-44_519-43del	XP_016868949.1:n.519-44_519-43del
XM_017013462.2:c.519-44_519-43del	XP_016868951.1:n.519-44_519-43del
XM_024447163.1:c.1152-44_1152-43del	XP_024302931.1:n.1152-44_1152-43del
XM_024447164.1:c.1152-44_1152-43del	XP_024302932.1:n.1152-44_1152-43del
XM_024447165.1:c.519-44_519-43del	XP_024302933.1:n.519-44_519-43del
NM_002485.5:c.1398-44_1398-43del MANE Select	NP_002476.2:n.1398-44_1398-43del
NM_001024688.3:c.1152-44_1152-43del	NP_001019859.1:n.1152-44_1152-43del