Canonical Allele Identifier: CA2579201601

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946212_89946216del , CM000670.2:g.89946212_89946216del	GRCh38
NC_000008.10:g.90958440_90958444del , CM000670.1:g.90958440_90958444del	GRCh37
NC_000008.9:g.91027616_91027620del	NCBI36
NG_008860.1:g.43456_43460del , LRG_158:g.43456_43460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3296_3300del
ENST00000517337.2:c.1748_1752del	ENSP00000429971.2:p.Lys583IlefsTer11
ENST00000523444.2:c.1748_1752del	ENSP00000428252.2:p.Lys583IlefsTer11
ENST00000697292.1:c.1994_1998del	ENSP00000513229.1:p.Lys665IlefsTer11
ENST00000697293.1:c.1994_1998del	ENSP00000513230.1:p.Lys665IlefsTer11
ENST00000697294.1:c.*1605_*1609del	ENSP00000513231.1:n.*1605_*1609del
ENST00000697295.1:c.*1303_*1307del	ENSP00000513232.1:n.*1303_*1307del
ENST00000697296.1:c.*1662_*1666del	ENSP00000513233.1:n.*1662_*1666del
ENST00000697297.1:n.3779_3783del
ENST00000697298.1:c.1748_1752del	ENSP00000513234.1:p.Lys583IlefsTer11
ENST00000697299.1:c.1748_1752del	ENSP00000513235.1:p.Lys583IlefsTer11
ENST00000697300.1:c.*1598_*1602del	ENSP00000513236.1:n.*1598_*1602del
ENST00000697301.1:c.*1515_*1519del	ENSP00000513237.1:n.*1515_*1519del
ENST00000697302.1:c.*1515_*1519del	ENSP00000513238.1:n.*1515_*1519del
ENST00000697303.1:c.*1598_*1602del	ENSP00000513239.1:n.*1598_*1602del
ENST00000697304.1:c.1682_1686del	ENSP00000513240.1:p.Lys561IlefsTer11
ENST00000697306.1:c.*2545_*2549del	ENSP00000513241.1:n.*2545_*2549del
ENST00000697307.1:c.1846-2850_1846-2846del	ENSP00000513242.1:n.1846-2850_1846-2846del
ENST00000697308.1:c.1925_1929del	ENSP00000513243.1:p.Lys642IlefsTer11
ENST00000697309.1:c.1994_1998del	ENSP00000513244.1:p.Lys665IlefsTer11
ENST00000697310.1:c.1994_1998del	ENSP00000513245.1:p.Lys665IlefsTer11
ENST00000697311.1:c.1994_1998del	ENSP00000513246.1:p.Lys665IlefsTer11
ENST00000697312.1:c.*1392_*1396del	ENSP00000513247.1:n.*1392_*1396del
ENST00000697313.1:n.2688-10604_2688-10600del
ENST00000697314.1:n.3636+7028_3636+7032del
ENST00000697315.1:c.1994_1998del	ENSP00000513248.1:p.Lys665IlefsTer11
ENST00000697316.1:n.2115_2119del
ENST00000697317.1:n.2085_2089del
ENST00000265433.8:c.1994_1998del MANE Select	ENSP00000265433.4:p.Lys665IlefsTer11
ENST00000265433.7:c.1994_1998del	ENSP00000265433.3:p.Lys665IlefsTer11
ENST00000396252.6:c.*1867_*1871del	ENSP00000379551.2:n.*1867_*1871del
ENST00000409330.5:c.1748_1752del	ENSP00000386924.1:p.Lys583IlefsTer11
ENST00000520325.1:n.410_414del
ENST00000613033.1:c.180+1608_180+1612del	ENSP00000484487.1:n.180+1608_180+1612del
NM_001024688.2:c.1748_1752del	NP_001019859.1:p.Lys583IlefsTer11
NM_002485.4:c.1994_1998del , LRG_158t1:c.1994_1998del	NP_002476.2:p.Lys665IlefsTer11
XM_011517044.1:c.1970_1974del	XP_011515346.1:p.Lys657IlefsTer11
XM_011517045.1:c.1748_1752del	XP_011515347.1:p.Lys583IlefsTer11
XM_017013460.1:c.1115_1119del	XP_016868949.1:p.Lys372IlefsTer11
XM_017013462.2:c.1115_1119del	XP_016868951.1:p.Lys372IlefsTer11
XM_024447163.1:c.1748_1752del	XP_024302931.1:p.Lys583IlefsTer11
XM_024447164.1:c.1748_1752del	XP_024302932.1:p.Lys583IlefsTer11
XM_024447165.1:c.1115_1119del	XP_024302933.1:p.Lys372IlefsTer11
NM_002485.5:c.1994_1998del MANE Select	NP_002476.2:p.Lys665IlefsTer11
NM_001024688.3:c.1748_1752del	NP_001019859.1:p.Lys583IlefsTer11