Canonical Allele Identifier: CA2573143340

Gene: NBN

Linked Data

• ClinVar Variation Id: 1488468
• ClinVar RCV Id: RCV002009167
• dbSNP Id: rs2130763620

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946155_89946163del , CM000670.2:g.89946155_89946163del	GRCh38
NC_000008.10:g.90958383_90958391del , CM000670.1:g.90958383_90958391del	GRCh37
NC_000008.9:g.91027559_91027567del	NCBI36
NG_008860.1:g.43511_43519del , LRG_158:g.43511_43519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3351_3359del
ENST00000517337.2:c.1803_1811del	ENSP00000429971.2:p.Asn602_Lys604del
ENST00000523444.2:c.1803_1811del	ENSP00000428252.2:p.Asn602_Lys604del
ENST00000697292.1:c.2049_2057del	ENSP00000513229.1:p.Asn684_Lys686del
ENST00000697293.1:c.2049_2057del	ENSP00000513230.1:p.Asn684_Lys686del
ENST00000697294.1:c.*1660_*1668del	ENSP00000513231.1:n.*1660_*1668del
ENST00000697295.1:c.*1358_*1366del	ENSP00000513232.1:n.*1358_*1366del
ENST00000697296.1:c.*1717_*1725del	ENSP00000513233.1:n.*1717_*1725del
ENST00000697297.1:n.3834_3842del
ENST00000697298.1:c.1803_1811del	ENSP00000513234.1:p.Asn602_Lys604del
ENST00000697299.1:c.1803_1811del	ENSP00000513235.1:p.Asn602_Lys604del
ENST00000697300.1:c.*1653_*1661del	ENSP00000513236.1:n.*1653_*1661del
ENST00000697301.1:c.*1570_*1578del	ENSP00000513237.1:n.*1570_*1578del
ENST00000697302.1:c.*1570_*1578del	ENSP00000513238.1:n.*1570_*1578del
ENST00000697303.1:c.*1653_*1661del	ENSP00000513239.1:n.*1653_*1661del
ENST00000697304.1:c.1737_1745del	ENSP00000513240.1:p.Asn580_Lys582del
ENST00000697306.1:c.*2600_*2608del	ENSP00000513241.1:n.*2600_*2608del
ENST00000697307.1:c.1846-2795_1846-2787del	ENSP00000513242.1:n.1846-2795_1846-2787de...
ENST00000697308.1:c.1980_1988del	ENSP00000513243.1:p.Asn661_Lys663del
ENST00000697309.1:c.2049_2057del	ENSP00000513244.1:p.Asn684_Lys686del
ENST00000697310.1:c.2049_2057del	ENSP00000513245.1:p.Asn684_Lys686del
ENST00000697311.1:c.2049_2057del	ENSP00000513246.1:p.Asn684_Lys686del
ENST00000697312.1:c.*1447_*1455del	ENSP00000513247.1:n.*1447_*1455del
ENST00000697313.1:n.2688-10549_2688-10541del
ENST00000697314.1:n.3636+7083_3636+7091del
ENST00000697315.1:c.2049_2057del	ENSP00000513248.1:p.Asn684_Lys686del
ENST00000697316.1:n.2170_2178del
ENST00000697317.1:n.2140_2148del
ENST00000265433.8:c.2049_2057del MANE Select	ENSP00000265433.4:p.Asn684_Lys686del
ENST00000265433.7:c.2049_2057del	ENSP00000265433.3:p.Asn684_Lys686del
ENST00000396252.6:c.*1922_*1930del	ENSP00000379551.2:n.*1922_*1930del
ENST00000409330.5:c.1803_1811del	ENSP00000386924.1:p.Asn602_Lys604del
ENST00000520325.1:n.465_473del
ENST00000613033.1:c.180+1663_180+1671del	ENSP00000484487.1:n.180+1663_180+1671del
NM_001024688.2:c.1803_1811del	NP_001019859.1:p.Asn602_Lys604del
NM_002485.4:c.2049_2057del , LRG_158t1:c.2049_2057del	NP_002476.2:p.Asn684_Lys686del
XM_011517044.1:c.2025_2033del	XP_011515346.1:p.Asn676_Lys678del
XM_011517045.1:c.1803_1811del	XP_011515347.1:p.Asn602_Lys604del
XM_017013460.1:c.1170_1178del	XP_016868949.1:p.Asn391_Lys393del
XM_017013462.2:c.1170_1178del	XP_016868951.1:p.Asn391_Lys393del
XM_024447163.1:c.1803_1811del	XP_024302931.1:p.Asn602_Lys604del
XM_024447164.1:c.1803_1811del	XP_024302932.1:p.Asn602_Lys604del
XM_024447165.1:c.1170_1178del	XP_024302933.1:p.Asn391_Lys393del
NM_002485.5:c.2049_2057del MANE Select	NP_002476.2:p.Asn684_Lys686del
NM_001024688.3:c.1803_1811del	NP_001019859.1:p.Asn602_Lys604del