Canonical Allele Identifier: CA2687854492

Gene: NBN

Linked Data

• gnomAD v4: 8-89953800-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953801_89953802del , CM000670.2:g.89953801_89953802del	GRCh38
NC_000008.10:g.90966029_90966030del , CM000670.1:g.90966029_90966030del	GRCh37
NC_000008.9:g.91035205_91035206del	NCBI36
NG_008860.1:g.35870_35871del , LRG_158:g.35870_35871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-111_2700-110del
ENST00000517337.2:c.1152-111_1152-110del	ENSP00000429971.2:n.1152-111_1152-110del
ENST00000523444.2:c.1152-111_1152-110del	ENSP00000428252.2:n.1152-111_1152-110del
ENST00000697292.1:c.1398-111_1398-110del	ENSP00000513229.1:n.1398-111_1398-110del
ENST00000697293.1:c.1398-111_1398-110del	ENSP00000513230.1:n.1398-111_1398-110del
ENST00000697294.1:c.*1009-111_*1009-110del	ENSP00000513231.1:n.*1009-111_*1009-110del
ENST00000697295.1:c.*707-111_*707-110del	ENSP00000513232.1:n.*707-111_*707-110del
ENST00000697296.1:c.*1066-111_*1066-110del	ENSP00000513233.1:n.*1066-111_*1066-110del
ENST00000697297.1:n.3183-111_3183-110del
ENST00000697298.1:c.1152-111_1152-110del	ENSP00000513234.1:n.1152-111_1152-110del
ENST00000697299.1:c.1152-111_1152-110del	ENSP00000513235.1:n.1152-111_1152-110del
ENST00000697300.1:c.*1002-111_*1002-110del	ENSP00000513236.1:n.*1002-111_*1002-110del
ENST00000697301.1:c.*919-111_*919-110del	ENSP00000513237.1:n.*919-111_*919-110del
ENST00000697302.1:c.*919-111_*919-110del	ENSP00000513238.1:n.*919-111_*919-110del
ENST00000697303.1:c.*1002-111_*1002-110del	ENSP00000513239.1:n.*1002-111_*1002-110del
ENST00000697304.1:c.1086-111_1086-110del	ENSP00000513240.1:n.1086-111_1086-110del
ENST00000697306.1:c.*398-111_*398-110del	ENSP00000513241.1:n.*398-111_*398-110del
ENST00000697307.1:c.1398-111_1398-110del	ENSP00000513242.1:n.1398-111_1398-110del
ENST00000697308.1:c.1398-111_1398-110del	ENSP00000513243.1:n.1398-111_1398-110del
ENST00000697309.1:c.1398-111_1398-110del	ENSP00000513244.1:n.1398-111_1398-110del
ENST00000697310.1:c.1398-111_1398-110del	ENSP00000513245.1:n.1398-111_1398-110del
ENST00000697311.1:c.1398-111_1398-110del	ENSP00000513246.1:n.1398-111_1398-110del
ENST00000697312.1:c.*796-111_*796-110del	ENSP00000513247.1:n.*796-111_*796-110del
ENST00000697313.1:n.2687+16562_2687+16563del
ENST00000697314.1:n.3189-111_3189-110del
ENST00000697315.1:c.1398-111_1398-110del	ENSP00000513248.1:n.1398-111_1398-110del
ENST00000697316.1:n.1519-111_1519-110del
ENST00000697317.1:n.1508-111_1508-110del
ENST00000697318.1:n.1510-111_1510-110del
ENST00000265433.8:c.1398-111_1398-110del MANE Select	ENSP00000265433.4:n.1398-111_1398-110del
ENST00000265433.7:c.1398-111_1398-110del	ENSP00000265433.3:n.1398-111_1398-110del
ENST00000396252.6:c.*1271-111_*1271-110del	ENSP00000379551.2:n.*1271-111_*1271-110del
ENST00000409330.5:c.1152-111_1152-110del	ENSP00000386924.1:n.1152-111_1152-110del
NM_001024688.2:c.1152-111_1152-110del	NP_001019859.1:n.1152-111_1152-110del
NM_002485.4:c.1398-111_1398-110del , LRG_158t1:c.1398-111_1398-110del	NP_002476.2:n.1398-111_1398-110del
XM_011517044.1:c.1374-111_1374-110del	XP_011515346.1:n.1374-111_1374-110del
XM_011517045.1:c.1152-111_1152-110del	XP_011515347.1:n.1152-111_1152-110del
XM_011517046.1:c.1396-108_1396-107del	XP_011515348.1:n.1396-108_1396-107del
XR_928335.1:n.1534-108_1534-107del
XM_017013460.1:c.519-111_519-110del	XP_016868949.1:n.519-111_519-110del
XM_017013462.2:c.519-111_519-110del	XP_016868951.1:n.519-111_519-110del
XM_024447163.1:c.1152-111_1152-110del	XP_024302931.1:n.1152-111_1152-110del
XM_024447164.1:c.1152-111_1152-110del	XP_024302932.1:n.1152-111_1152-110del
XM_024447165.1:c.519-111_519-110del	XP_024302933.1:n.519-111_519-110del
NM_002485.5:c.1398-111_1398-110del MANE Select	NP_002476.2:n.1398-111_1398-110del
NM_001024688.3:c.1152-111_1152-110del	NP_001019859.1:n.1152-111_1152-110del