Canonical Allele Identifier: CA2687853905

Gene: NBN

Linked Data

• gnomAD v4: 8-89946279-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946280del , CM000670.2:g.89946280del	GRCh38
NC_000008.10:g.90958508del , CM000670.1:g.90958508del	GRCh37
NC_000008.9:g.91027684del	NCBI36
NG_008860.1:g.43392del , LRG_158:g.43392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3232del
ENST00000517337.2:c.1684del	ENSP00000429971.2:p.Gln562ArgfsTer13
ENST00000523444.2:c.1684del	ENSP00000428252.2:p.Gln562ArgfsTer13
ENST00000697292.1:c.1930del	ENSP00000513229.1:p.Gln644ArgfsTer13
ENST00000697293.1:c.1930del	ENSP00000513230.1:p.Gln644ArgfsTer13
ENST00000697294.1:c.*1541del	ENSP00000513231.1:n.*1541del
ENST00000697295.1:c.*1239del	ENSP00000513232.1:n.*1239del
ENST00000697296.1:c.*1598del	ENSP00000513233.1:n.*1598del
ENST00000697297.1:n.3715del
ENST00000697298.1:c.1684del	ENSP00000513234.1:p.Gln562ArgfsTer13
ENST00000697299.1:c.1684del	ENSP00000513235.1:p.Gln562ArgfsTer13
ENST00000697300.1:c.*1534del	ENSP00000513236.1:n.*1534del
ENST00000697301.1:c.*1451del	ENSP00000513237.1:n.*1451del
ENST00000697302.1:c.*1451del	ENSP00000513238.1:n.*1451del
ENST00000697303.1:c.*1534del	ENSP00000513239.1:n.*1534del
ENST00000697304.1:c.1618del	ENSP00000513240.1:p.Gln540ArgfsTer13
ENST00000697306.1:c.*2481del	ENSP00000513241.1:n.*2481del
ENST00000697307.1:c.1846-2914del	ENSP00000513242.1:n.1846-2914del
ENST00000697308.1:c.1861del	ENSP00000513243.1:p.Gln621ArgfsTer13
ENST00000697309.1:c.1930del	ENSP00000513244.1:p.Gln644ArgfsTer13
ENST00000697310.1:c.1930del	ENSP00000513245.1:p.Gln644ArgfsTer13
ENST00000697311.1:c.1930del	ENSP00000513246.1:p.Gln644ArgfsTer13
ENST00000697312.1:c.*1328del	ENSP00000513247.1:n.*1328del
ENST00000697313.1:n.2688-10668del
ENST00000697314.1:n.3636+6964del
ENST00000697315.1:c.1930del	ENSP00000513248.1:p.Gln644ArgfsTer13
ENST00000697316.1:n.2051del
ENST00000697317.1:n.2021del
ENST00000265433.8:c.1930del MANE Select	ENSP00000265433.4:p.Gln644ArgfsTer13
ENST00000265433.7:c.1930del	ENSP00000265433.3:p.Gln644ArgfsTer13
ENST00000396252.6:c.*1803del	ENSP00000379551.2:n.*1803del
ENST00000409330.5:c.1684del	ENSP00000386924.1:p.Gln562ArgfsTer13
ENST00000520325.1:n.346del
ENST00000613033.1:c.180+1544del	ENSP00000484487.1:n.180+1544del
NM_001024688.2:c.1684del	NP_001019859.1:p.Gln562ArgfsTer13
NM_002485.4:c.1930del , LRG_158t1:c.1930del	NP_002476.2:p.Gln644ArgfsTer13
XM_011517044.1:c.1906del	XP_011515346.1:p.Gln636ArgfsTer13
XM_011517045.1:c.1684del	XP_011515347.1:p.Gln562ArgfsTer13
XR_928335.1:n.2069del
XM_017013460.1:c.1051del	XP_016868949.1:p.Gln351ArgfsTer13
XM_017013462.2:c.1051del	XP_016868951.1:p.Gln351ArgfsTer13
XM_024447163.1:c.1684del	XP_024302931.1:p.Gln562ArgfsTer13
XM_024447164.1:c.1684del	XP_024302932.1:p.Gln562ArgfsTer13
XM_024447165.1:c.1051del	XP_024302933.1:p.Gln351ArgfsTer13
NM_002485.5:c.1930del MANE Select	NP_002476.2:p.Gln644ArgfsTer13
NM_001024688.3:c.1684del	NP_001019859.1:p.Gln562ArgfsTer13