Canonical Allele Identifier: CA350713

Gene: NBN

Linked Data

• ClinVar Variation Id: 219789
• ClinVar RCV Id: RCV000206712 ; RCV000221111 ; RCV001569090 ; RCV001824684 ; RCV003468934
• dbSNP Id: rs864622253
• gnomAD v4: 8-89982798-GCA-G
• MyVariant Identifiers: chr8:g.90995027_90995028del (hg19) ; chr8:g.89982799_89982800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982801_89982802del , CM000670.2:g.89982801_89982802del	GRCh38
NC_000008.10:g.90995029_90995030del , CM000670.1:g.90995029_90995030del	GRCh37
NC_000008.9:g.91064205_91064206del	NCBI36
NG_008860.1:g.6872_6873del , LRG_158:g.6872_6873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.197_198del
ENST00000517337.2:c.-204_-203del	ENSP00000429971.2:n.-204_-203del
ENST00000523444.2:c.-204_-203del	ENSP00000428252.2:n.-204_-203del
ENST00000697292.1:c.93_94del	ENSP00000513229.1:p.Ala32HisfsTer4
ENST00000697293.1:c.93_94del	ENSP00000513230.1:p.Ala32HisfsTer4
ENST00000697294.1:c.93_94del	ENSP00000513231.1:p.Ala32HisfsTer4
ENST00000697295.1:c.37+1725_37+1726del	ENSP00000513232.1:n.37+1725_37+1726del
ENST00000697296.1:c.93_94del	ENSP00000513233.1:p.Ala32HisfsTer4
ENST00000697297.1:n.199_200del
ENST00000697298.1:c.-204_-203del	ENSP00000513234.1:n.-204_-203del
ENST00000697299.1:c.-75-1277_-75-1276del	ENSP00000513235.1:n.-75-1277_-75-1276del
ENST00000697300.1:c.-204_-203del	ENSP00000513236.1:n.-204_-203del
ENST00000697301.1:c.-204_-203del	ENSP00000513237.1:n.-204_-203del
ENST00000697302.1:c.93_94del	ENSP00000513238.1:p.Ala32HisfsTer4
ENST00000697303.1:c.93_94del	ENSP00000513239.1:p.Ala32HisfsTer4
ENST00000697304.1:c.93_94del	ENSP00000513240.1:p.Ala32HisfsTer4
ENST00000697306.1:c.93_94del	ENSP00000513241.1:p.Ala32HisfsTer4
ENST00000697307.1:c.93_94del	ENSP00000513242.1:p.Ala32HisfsTer4
ENST00000697308.1:c.93_94del	ENSP00000513243.1:p.Ala32HisfsTer4
ENST00000697309.1:c.93_94del	ENSP00000513244.1:p.Ala32HisfsTer4
ENST00000697310.1:c.93_94del	ENSP00000513245.1:p.Ala32HisfsTer4
ENST00000697311.1:c.93_94del	ENSP00000513246.1:p.Ala32HisfsTer4
ENST00000697312.1:c.93_94del	ENSP00000513247.1:p.Ala32HisfsTer4
ENST00000697313.1:n.205_206del
ENST00000697314.1:n.205_206del
ENST00000697315.1:c.93_94del	ENSP00000513248.1:p.Ala32HisfsTer4
ENST00000697316.1:n.214_215del
ENST00000697317.1:n.203_204del
ENST00000697318.1:n.205_206del
ENST00000265433.8:c.93_94del MANE Select	ENSP00000265433.4:p.Ala32HisfsTer4
ENST00000265433.7:c.93_94del	ENSP00000265433.3:p.Ala32HisfsTer4
ENST00000396252.6:c.93_94del	ENSP00000379551.2:p.Ala32HisfsTer4
ENST00000409330.5:c.-154_-153del	ENSP00000386924.1:n.-154_-153del
ENST00000494804.1:n.197_198del
ENST00000517337.1:c.-204_-203del	ENSP00000429971.1:n.-204_-203del
ENST00000519426.5:c.93_94del	ENSP00000430983.1:p.Ala32HisfsTer4
ENST00000523444.1:c.93_94del	ENSP00000428252.1:p.Ala32HisfsTer4
NM_001024688.2:c.-204_-203del	NP_001019859.1:n.-204_-203del
NM_002485.4:c.93_94del , LRG_158t1:c.93_94del	NP_002476.2:p.Ala32HisfsTer4
XM_011517044.1:c.69_70del	XP_011515346.1:p.Ala24HisfsTer4
XM_011517045.1:c.-204_-203del	XP_011515347.1:n.-204_-203del
XM_011517046.1:c.93_94del	XP_011515348.1:p.Ala32HisfsTer4
XR_928335.1:n.230_231del
XM_017013460.1:c.-927_-926del	XP_016868949.1:n.-927_-926del
XM_017013462.2:c.-733_-732del	XP_016868951.1:n.-733_-732del
XM_024447163.1:c.-154_-153del	XP_024302931.1:n.-154_-153del
XM_024447165.1:c.-877_-876del	XP_024302933.1:n.-877_-876del
NM_002485.5:c.93_94del MANE Select	NP_002476.2:p.Ala32HisfsTer4
NM_001024688.3:c.-204_-203del	NP_001019859.1:n.-204_-203del