Canonical Allele Identifier: CA2687854435

Gene: NBN

Linked Data

• gnomAD v4: 8-89953626-GAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953629_89953631del , CM000670.2:g.89953629_89953631del	GRCh38
NC_000008.10:g.90965857_90965859del , CM000670.1:g.90965857_90965859del	GRCh37
NC_000008.9:g.91035033_91035035del	NCBI36
NG_008860.1:g.36043_36045del , LRG_158:g.36043_36045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2762_2764del
ENST00000517337.2:c.1214_1216del	ENSP00000429971.2:p.Cys405del
ENST00000523444.2:c.1214_1216del	ENSP00000428252.2:p.Cys405del
ENST00000697292.1:c.1460_1462del	ENSP00000513229.1:p.Cys487del
ENST00000697293.1:c.1460_1462del	ENSP00000513230.1:p.Cys487del
ENST00000697294.1:c.*1071_*1073del	ENSP00000513231.1:n.*1071_*1073del
ENST00000697295.1:c.*769_*771del	ENSP00000513232.1:n.*769_*771del
ENST00000697296.1:c.*1128_*1130del	ENSP00000513233.1:n.*1128_*1130del
ENST00000697297.1:n.3245_3247del
ENST00000697298.1:c.1214_1216del	ENSP00000513234.1:p.Cys405del
ENST00000697299.1:c.1214_1216del	ENSP00000513235.1:p.Cys405del
ENST00000697300.1:c.*1064_*1066del	ENSP00000513236.1:n.*1064_*1066del
ENST00000697301.1:c.*981_*983del	ENSP00000513237.1:n.*981_*983del
ENST00000697302.1:c.*981_*983del	ENSP00000513238.1:n.*981_*983del
ENST00000697303.1:c.*1064_*1066del	ENSP00000513239.1:n.*1064_*1066del
ENST00000697304.1:c.1148_1150del	ENSP00000513240.1:p.Cys383del
ENST00000697306.1:c.*460_*462del	ENSP00000513241.1:n.*460_*462del
ENST00000697307.1:c.1460_1462del	ENSP00000513242.1:p.Cys487del
ENST00000697308.1:c.1460_1462del	ENSP00000513243.1:p.Cys487del
ENST00000697309.1:c.1460_1462del	ENSP00000513244.1:p.Cys487del
ENST00000697310.1:c.1460_1462del	ENSP00000513245.1:p.Cys487del
ENST00000697311.1:c.1460_1462del	ENSP00000513246.1:p.Cys487del
ENST00000697312.1:c.*858_*860del	ENSP00000513247.1:n.*858_*860del
ENST00000697313.1:n.2687+16735_2687+16737del
ENST00000697314.1:n.3251_3253del
ENST00000697315.1:c.1460_1462del	ENSP00000513248.1:p.Cys487del
ENST00000697316.1:n.1581_1583del
ENST00000697317.1:n.1570_1572del
ENST00000697318.1:n.1572_1574del
ENST00000265433.8:c.1460_1462del MANE Select	ENSP00000265433.4:p.Cys487del
ENST00000265433.7:c.1460_1462del	ENSP00000265433.3:p.Cys487del
ENST00000396252.6:c.*1333_*1335del	ENSP00000379551.2:n.*1333_*1335del
ENST00000409330.5:c.1214_1216del	ENSP00000386924.1:p.Cys405del
NM_001024688.2:c.1214_1216del	NP_001019859.1:p.Cys405del
NM_002485.4:c.1460_1462del , LRG_158t1:c.1460_1462del	NP_002476.2:p.Cys487del
XM_011517044.1:c.1436_1438del	XP_011515346.1:p.Cys479del
XM_011517045.1:c.1214_1216del	XP_011515347.1:p.Cys405del
XR_928335.1:n.1599_1601del
XM_017013460.1:c.581_583del	XP_016868949.1:p.Cys194del
XM_017013462.2:c.581_583del	XP_016868951.1:p.Cys194del
XM_024447163.1:c.1214_1216del	XP_024302931.1:p.Cys405del
XM_024447164.1:c.1214_1216del	XP_024302932.1:p.Cys405del
XM_024447165.1:c.581_583del	XP_024302933.1:p.Cys194del
NM_002485.5:c.1460_1462del MANE Select	NP_002476.2:p.Cys487del
NM_001024688.3:c.1214_1216del	NP_001019859.1:p.Cys405del