Canonical Allele Identifier: CA2695209917

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946209dup , CM000670.2:g.89946209dup	GRCh38
NC_000008.10:g.90958437dup , CM000670.1:g.90958437dup	GRCh37
NC_000008.9:g.91027613dup	NCBI36
NG_008860.1:g.43463dup , LRG_158:g.43463dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3303dup
ENST00000517337.2:c.1755dup	ENSP00000429971.2:p.Thr586TyrfsTer10
ENST00000523444.2:c.1755dup	ENSP00000428252.2:p.Thr586TyrfsTer10
ENST00000697292.1:c.2001dup	ENSP00000513229.1:p.Thr668TyrfsTer10
ENST00000697293.1:c.2001dup	ENSP00000513230.1:p.Thr668TyrfsTer10
ENST00000697294.1:c.*1612dup	ENSP00000513231.1:n.*1612dup
ENST00000697295.1:c.*1310dup	ENSP00000513232.1:n.*1310dup
ENST00000697296.1:c.*1669dup	ENSP00000513233.1:n.*1669dup
ENST00000697297.1:n.3786dup
ENST00000697298.1:c.1755dup	ENSP00000513234.1:p.Thr586TyrfsTer10
ENST00000697299.1:c.1755dup	ENSP00000513235.1:p.Thr586TyrfsTer10
ENST00000697300.1:c.*1605dup	ENSP00000513236.1:n.*1605dup
ENST00000697301.1:c.*1522dup	ENSP00000513237.1:n.*1522dup
ENST00000697302.1:c.*1522dup	ENSP00000513238.1:n.*1522dup
ENST00000697303.1:c.*1605dup	ENSP00000513239.1:n.*1605dup
ENST00000697304.1:c.1689dup	ENSP00000513240.1:p.Thr564TyrfsTer10
ENST00000697306.1:c.*2552dup	ENSP00000513241.1:n.*2552dup
ENST00000697307.1:c.1846-2843dup	ENSP00000513242.1:n.1846-2843dup
ENST00000697308.1:c.1932dup	ENSP00000513243.1:p.Thr645TyrfsTer10
ENST00000697309.1:c.2001dup	ENSP00000513244.1:p.Thr668TyrfsTer10
ENST00000697310.1:c.2001dup	ENSP00000513245.1:p.Thr668TyrfsTer10
ENST00000697311.1:c.2001dup	ENSP00000513246.1:p.Thr668TyrfsTer10
ENST00000697312.1:c.*1399dup	ENSP00000513247.1:n.*1399dup
ENST00000697313.1:n.2688-10597dup
ENST00000697314.1:n.3636+7035dup
ENST00000697315.1:c.2001dup	ENSP00000513248.1:p.Thr668TyrfsTer10
ENST00000697316.1:n.2122dup
ENST00000697317.1:n.2092dup
ENST00000265433.8:c.2001dup MANE Select	ENSP00000265433.4:p.Thr668TyrfsTer10
ENST00000265433.7:c.2001dup	ENSP00000265433.3:p.Thr668TyrfsTer10
ENST00000396252.6:c.*1874dup	ENSP00000379551.2:n.*1874dup
ENST00000409330.5:c.1755dup	ENSP00000386924.1:p.Thr586TyrfsTer10
ENST00000520325.1:n.417dup
ENST00000613033.1:c.180+1615dup	ENSP00000484487.1:n.180+1615dup
NM_001024688.2:c.1755dup	NP_001019859.1:p.Thr586TyrfsTer10
NM_002485.4:c.2001dup , LRG_158t1:c.2001dup	NP_002476.2:p.Thr668TyrfsTer10
XM_011517044.1:c.1977dup	XP_011515346.1:p.Thr660TyrfsTer10
XM_011517045.1:c.1755dup	XP_011515347.1:p.Thr586TyrfsTer10
XM_017013460.1:c.1122dup	XP_016868949.1:p.Thr375TyrfsTer10
XM_017013462.2:c.1122dup	XP_016868951.1:p.Thr375TyrfsTer10
XM_024447163.1:c.1755dup	XP_024302931.1:p.Thr586TyrfsTer10
XM_024447164.1:c.1755dup	XP_024302932.1:p.Thr586TyrfsTer10
XM_024447165.1:c.1122dup	XP_024302933.1:p.Thr375TyrfsTer10
NM_002485.5:c.2001dup MANE Select	NP_002476.2:p.Thr668TyrfsTer10
NM_001024688.3:c.1755dup	NP_001019859.1:p.Thr586TyrfsTer10