Canonical Allele Identifier: CA1801505174

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970373_89970380delinsATATCCAT , CM000670.2:g.89970373_89970380delinsATATCCAT	GRCh38
NC_000008.10:g.90982601_90982608delinsATATCCAT , CM000670.1:g.90982601_90982608delinsATATCCAT	GRCh37
NC_000008.9:g.91051777_91051784delinsATATCCAT	NCBI36
NG_008860.1:g.19292_19299delinsATGGATAT , LRG_158:g.19292_19299delinsATGGATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2182_2189delinsATGGATAT
ENST00000517337.2:c.634_641delinsATGGATAT	ENSP00000429971.2:p.Met212=
ENST00000523444.2:c.634_641delinsATGGATAT	ENSP00000428252.2:p.Met212=
ENST00000697292.1:c.880_887delinsATGGATAT	ENSP00000513229.1:p.Met294=
ENST00000697293.1:c.880_887delinsATGGATAT	ENSP00000513230.1:p.Met294=
ENST00000697294.1:c.*491_*498delinsATGGATAT	ENSP00000513231.1:n.*491_*498delinsATGGATAT
ENST00000697295.1:c.*189_*196delinsATGGATAT	ENSP00000513232.1:n.*189_*196delinsATGGATAT
ENST00000697296.1:c.*548_*555delinsATGGATAT	ENSP00000513233.1:n.*548_*555delinsATGGATAT
ENST00000697297.1:n.2665_2672delinsATGGATAT
ENST00000697298.1:c.634_641delinsATGGATAT	ENSP00000513234.1:p.Met212=
ENST00000697299.1:c.634_641delinsATGGATAT	ENSP00000513235.1:p.Met212=
ENST00000697300.1:c.*484_*491delinsATGGATAT	ENSP00000513236.1:n.*484_*491delinsATGGATAT
ENST00000697301.1:c.*401_*408delinsATGGATAT	ENSP00000513237.1:n.*401_*408delinsATGGATAT
ENST00000697302.1:c.*401_*408delinsATGGATAT	ENSP00000513238.1:n.*401_*408delinsATGGATAT
ENST00000697303.1:c.*484_*491delinsATGGATAT	ENSP00000513239.1:n.*484_*491delinsATGGATAT
ENST00000697304.1:c.585-5873_585-5866delinsATGGATAT	ENSP00000513240.1:n.585-5873_585-5866delinsATGGATAT
ENST00000697306.1:c.480+10354_480+10361delinsATGGATAT	ENSP00000513241.1:n.480+10354_480+10361delinsATGGATAT
ENST00000697307.1:c.880_887delinsATGGATAT	ENSP00000513242.1:p.Met294=
ENST00000697308.1:c.880_887delinsATGGATAT	ENSP00000513243.1:p.Met294=
ENST00000697309.1:c.880_887delinsATGGATAT	ENSP00000513244.1:p.Met294=
ENST00000697310.1:c.880_887delinsATGGATAT	ENSP00000513245.1:p.Met294=
ENST00000697311.1:c.880_887delinsATGGATAT	ENSP00000513246.1:p.Met294=
ENST00000697312.1:c.*278_*285delinsATGGATAT	ENSP00000513247.1:n.*278_*285delinsATGGATAT
ENST00000697313.1:n.2671_2678delinsATGGATAT
ENST00000697314.1:n.2671_2678delinsATGGATAT
ENST00000697315.1:c.880_887delinsATGGATAT	ENSP00000513248.1:p.Met294=
ENST00000697316.1:n.1001_1008delinsATGGATAT
ENST00000697317.1:n.990_997delinsATGGATAT
ENST00000697318.1:n.992_999delinsATGGATAT
ENST00000265433.8:c.880_887delinsATGGATAT MANE Select	ENSP00000265433.4:p.Met294=
ENST00000265433.7:c.880_887delinsATGGATAT	ENSP00000265433.3:p.Met294=
ENST00000396252.6:c.*753_*760delinsATGGATAT	ENSP00000379551.2:n.*753_*760delinsATGGATAT
ENST00000409330.5:c.634_641delinsATGGATAT	ENSP00000386924.1:p.Met212=
NM_001024688.2:c.634_641delinsATGGATAT	NP_001019859.1:p.Met212=
NM_002485.4:c.880_887delinsATGGATAT , LRG_158t1:c.880_887delinsATGGATAT	NP_002476.2:p.Met294=
XM_011517044.1:c.856_863delinsATGGATAT	XP_011515346.1:p.Met286=
XM_011517045.1:c.634_641delinsATGGATAT	XP_011515347.1:p.Met212=
XM_011517046.1:c.880_887delinsATGGATAT	XP_011515348.1:p.Met294=
XR_928335.1:n.1017_1024delinsATGGATAT
XM_017013460.1:c.1_8delinsATGGATAT	XP_016868949.1:p.Met1=
XM_017013462.2:c.1_8delinsATGGATAT	XP_016868951.1:p.Met1=
XM_024447163.1:c.634_641delinsATGGATAT	XP_024302931.1:p.Met212=
XM_024447164.1:c.634_641delinsATGGATAT	XP_024302932.1:p.Met212=
XM_024447165.1:c.1_8delinsATGGATAT	XP_024302933.1:p.Met1=
NM_002485.5:c.880_887delinsATGGATAT MANE Select	NP_002476.2:p.Met294=
NM_001024688.3:c.634_641delinsATGGATAT	NP_001019859.1:p.Met212=