Canonical Allele Identifier: CA181258620

Gene: NBN

Linked Data

• dbSNP Id: rs974227191
• gnomAD v2: 8-90965975-A-ACC
• gnomAD v3: 8-89953747-A-ACC
• gnomAD v4: 8-89953747-A-ACC
• MyVariant Identifiers: chr8:g.90965975_90965976insCC (hg19) ; chr8:g.89953747_89953748insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953748_89953749dup , CM000670.2:g.89953748_89953749dup	GRCh38
NC_000008.10:g.90965976_90965977dup , CM000670.1:g.90965976_90965977dup	GRCh37
NC_000008.9:g.91035152_91035153dup	NCBI36
NG_008860.1:g.35923_35924dup , LRG_158:g.35923_35924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-58_2700-57dup
ENST00000517337.2:c.1152-58_1152-57dup	ENSP00000429971.2:n.1152-58_1152-57dup
ENST00000523444.2:c.1152-58_1152-57dup	ENSP00000428252.2:n.1152-58_1152-57dup
ENST00000697292.1:c.1398-58_1398-57dup	ENSP00000513229.1:n.1398-58_1398-57dup
ENST00000697293.1:c.1398-58_1398-57dup	ENSP00000513230.1:n.1398-58_1398-57dup
ENST00000697294.1:c.*1009-58_*1009-57dup	ENSP00000513231.1:n.*1009-58_*1009-57dup
ENST00000697295.1:c.*707-58_*707-57dup	ENSP00000513232.1:n.*707-58_*707-57dup
ENST00000697296.1:c.*1066-58_*1066-57dup	ENSP00000513233.1:n.*1066-58_*1066-57dup
ENST00000697297.1:n.3183-58_3183-57dup
ENST00000697298.1:c.1152-58_1152-57dup	ENSP00000513234.1:n.1152-58_1152-57dup
ENST00000697299.1:c.1152-58_1152-57dup	ENSP00000513235.1:n.1152-58_1152-57dup
ENST00000697300.1:c.*1002-58_*1002-57dup	ENSP00000513236.1:n.*1002-58_*1002-57dup
ENST00000697301.1:c.*919-58_*919-57dup	ENSP00000513237.1:n.*919-58_*919-57dup
ENST00000697302.1:c.*919-58_*919-57dup	ENSP00000513238.1:n.*919-58_*919-57dup
ENST00000697303.1:c.*1002-58_*1002-57dup	ENSP00000513239.1:n.*1002-58_*1002-57dup
ENST00000697304.1:c.1086-58_1086-57dup	ENSP00000513240.1:n.1086-58_1086-57dup
ENST00000697306.1:c.*398-58_*398-57dup	ENSP00000513241.1:n.*398-58_*398-57dup
ENST00000697307.1:c.1398-58_1398-57dup	ENSP00000513242.1:n.1398-58_1398-57dup
ENST00000697308.1:c.1398-58_1398-57dup	ENSP00000513243.1:n.1398-58_1398-57dup
ENST00000697309.1:c.1398-58_1398-57dup	ENSP00000513244.1:n.1398-58_1398-57dup
ENST00000697310.1:c.1398-58_1398-57dup	ENSP00000513245.1:n.1398-58_1398-57dup
ENST00000697311.1:c.1398-58_1398-57dup	ENSP00000513246.1:n.1398-58_1398-57dup
ENST00000697312.1:c.*796-58_*796-57dup	ENSP00000513247.1:n.*796-58_*796-57dup
ENST00000697313.1:n.2687+16615_2687+16616dup
ENST00000697314.1:n.3189-58_3189-57dup
ENST00000697315.1:c.1398-58_1398-57dup	ENSP00000513248.1:n.1398-58_1398-57dup
ENST00000697316.1:n.1519-58_1519-57dup
ENST00000697317.1:n.1508-58_1508-57dup
ENST00000697318.1:n.1510-58_1510-57dup
ENST00000265433.8:c.1398-58_1398-57dup MANE Select	ENSP00000265433.4:n.1398-58_1398-57dup
ENST00000265433.7:c.1398-58_1398-57dup	ENSP00000265433.3:n.1398-58_1398-57dup
ENST00000396252.6:c.*1271-58_*1271-57dup	ENSP00000379551.2:n.*1271-58_*1271-57dup
ENST00000409330.5:c.1152-58_1152-57dup	ENSP00000386924.1:n.1152-58_1152-57dup
NM_001024688.2:c.1152-58_1152-57dup	NP_001019859.1:n.1152-58_1152-57dup
NM_002485.4:c.1398-58_1398-57dup , LRG_158t1:c.1398-58_1398-57dup	NP_002476.2:n.1398-58_1398-57dup
XM_011517044.1:c.1374-58_1374-57dup	XP_011515346.1:n.1374-58_1374-57dup
XM_011517045.1:c.1152-58_1152-57dup	XP_011515347.1:n.1152-58_1152-57dup
XM_011517046.1:c.1396-55_1396-54dup	XP_011515348.1:n.1396-55_1396-54dup
XR_928335.1:n.1534-55_1534-54dup
XM_017013460.1:c.519-58_519-57dup	XP_016868949.1:n.519-58_519-57dup
XM_017013462.2:c.519-58_519-57dup	XP_016868951.1:n.519-58_519-57dup
XM_024447163.1:c.1152-58_1152-57dup	XP_024302931.1:n.1152-58_1152-57dup
XM_024447164.1:c.1152-58_1152-57dup	XP_024302932.1:n.1152-58_1152-57dup
XM_024447165.1:c.519-58_519-57dup	XP_024302933.1:n.519-58_519-57dup
NM_002485.5:c.1398-58_1398-57dup MANE Select	NP_002476.2:n.1398-58_1398-57dup
NM_001024688.3:c.1152-58_1152-57dup	NP_001019859.1:n.1152-58_1152-57dup