Canonical Allele Identifier: CA1801505007

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970344_89970346delinsAAT , CM000670.2:g.89970344_89970346delinsAAT	GRCh38
NC_000008.10:g.90982572_90982574delinsAAT , CM000670.1:g.90982572_90982574delinsAAT	GRCh37
NC_000008.9:g.91051748_91051750delinsAAT	NCBI36
NG_008860.1:g.19326_19328delinsATT , LRG_158:g.19326_19328delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2198+18_2198+20delinsATT
ENST00000517337.2:c.650+18_650+20delinsATT	ENSP00000429971.2:n.650+18_650+20delinsATT
ENST00000523444.2:c.650+18_650+20delinsATT	ENSP00000428252.2:n.650+18_650+20delinsATT
ENST00000697292.1:c.896+18_896+20delinsATT	ENSP00000513229.1:n.896+18_896+20delinsATT
ENST00000697293.1:c.896+18_896+20delinsATT	ENSP00000513230.1:n.896+18_896+20delinsATT
ENST00000697294.1:c.*507+18_*507+20delinsATT	ENSP00000513231.1:n.*507+18_*507+20delinsATT
ENST00000697295.1:c.*205+18_*205+20delinsATT	ENSP00000513232.1:n.*205+18_*205+20delinsATT
ENST00000697296.1:c.*564+18_*564+20delinsATT	ENSP00000513233.1:n.*564+18_*564+20delinsATT
ENST00000697297.1:n.2681+18_2681+20delinsATT
ENST00000697298.1:c.650+18_650+20delinsATT	ENSP00000513234.1:n.650+18_650+20delinsATT
ENST00000697299.1:c.650+18_650+20delinsATT	ENSP00000513235.1:n.650+18_650+20delinsATT
ENST00000697300.1:c.*500+18_*500+20delinsATT	ENSP00000513236.1:n.*500+18_*500+20delinsATT
ENST00000697301.1:c.*417+18_*417+20delinsATT	ENSP00000513237.1:n.*417+18_*417+20delinsATT
ENST00000697302.1:c.*417+18_*417+20delinsATT	ENSP00000513238.1:n.*417+18_*417+20delinsATT
ENST00000697303.1:c.*500+18_*500+20delinsATT	ENSP00000513239.1:n.*500+18_*500+20delinsATT
ENST00000697304.1:c.585-5839_585-5837delinsATT	ENSP00000513240.1:n.585-5839_585-5837delinsATT
ENST00000697306.1:c.480+10388_480+10390delinsATT	ENSP00000513241.1:n.480+10388_480+10390delinsATT
ENST00000697307.1:c.896+18_896+20delinsATT	ENSP00000513242.1:n.896+18_896+20delinsATT
ENST00000697308.1:c.896+18_896+20delinsATT	ENSP00000513243.1:n.896+18_896+20delinsATT
ENST00000697309.1:c.896+18_896+20delinsATT	ENSP00000513244.1:n.896+18_896+20delinsATT
ENST00000697310.1:c.896+18_896+20delinsATT	ENSP00000513245.1:n.896+18_896+20delinsATT
ENST00000697311.1:c.896+18_896+20delinsATT	ENSP00000513246.1:n.896+18_896+20delinsATT
ENST00000697312.1:c.*294+18_*294+20delinsATT	ENSP00000513247.1:n.*294+18_*294+20delinsATT
ENST00000697313.1:n.2687+18_2687+20delinsATT
ENST00000697314.1:n.2687+18_2687+20delinsATT
ENST00000697315.1:c.896+18_896+20delinsATT	ENSP00000513248.1:n.896+18_896+20delinsATT
ENST00000697316.1:n.1017+18_1017+20delinsATT
ENST00000697317.1:n.1006+18_1006+20delinsATT
ENST00000697318.1:n.1008+18_1008+20delinsATT
ENST00000265433.8:c.896+18_896+20delinsATT MANE Select	ENSP00000265433.4:n.896+18_896+20delinsATT
ENST00000265433.7:c.896+18_896+20delinsATT	ENSP00000265433.3:n.896+18_896+20delinsATT
ENST00000396252.6:c.*769+18_*769+20delinsATT	ENSP00000379551.2:n.*769+18_*769+20delinsATT
ENST00000409330.5:c.650+18_650+20delinsATT	ENSP00000386924.1:n.650+18_650+20delinsATT
NM_001024688.2:c.650+18_650+20delinsATT	NP_001019859.1:n.650+18_650+20delinsATT
NM_002485.4:c.896+18_896+20delinsATT , LRG_158t1:c.896+18_896+20delinsATT	NP_002476.2:n.896+18_896+20delinsATT
XM_011517044.1:c.872+18_872+20delinsATT	XP_011515346.1:n.872+18_872+20delinsATT
XM_011517045.1:c.650+18_650+20delinsATT	XP_011515347.1:n.650+18_650+20delinsATT
XM_011517046.1:c.896+18_896+20delinsATT	XP_011515348.1:n.896+18_896+20delinsATT
XR_928335.1:n.1033+18_1033+20delinsATT
XM_017013460.1:c.17+18_17+20delinsATT	XP_016868949.1:n.17+18_17+20delinsATT
XM_017013462.2:c.17+18_17+20delinsATT	XP_016868951.1:n.17+18_17+20delinsATT
XM_024447163.1:c.650+18_650+20delinsATT	XP_024302931.1:n.650+18_650+20delinsATT
XM_024447164.1:c.650+18_650+20delinsATT	XP_024302932.1:n.650+18_650+20delinsATT
XM_024447165.1:c.17+18_17+20delinsATT	XP_024302933.1:n.17+18_17+20delinsATT
NM_002485.5:c.896+18_896+20delinsATT MANE Select	NP_002476.2:n.896+18_896+20delinsATT
NM_001024688.3:c.650+18_650+20delinsATT	NP_001019859.1:n.650+18_650+20delinsATT