Canonical Allele Identifier: CA10577366

Gene: NBN

Linked Data

• ClinVar Variation Id: 234849
• ClinVar RCV Id: RCV000223024
• dbSNP Id: rs876661254
• MyVariant Identifiers: chr8:g.90982640_90982671dup32 (hg19) ; chr8:g.90982639_90982640insGGAATTAAGGTCTGTGAGTTTGTTATTCCTGT (hg19) ; chr8:g.89970412_89970443dup32 (hg38) ; chr8:g.89970411_89970412insGGAATTAAGGTCTGTGAGTTTGTTATTCCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970412_89970443dup , CM000670.2:g.89970412_89970443dup	GRCh38
NC_000008.10:g.90982640_90982671dup , CM000670.1:g.90982640_90982671dup	GRCh37
NC_000008.9:g.91051816_91051847dup	NCBI36
NG_008860.1:g.19229_19260dup , LRG_158:g.19229_19260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2119_2150dup
ENST00000517337.2:c.571_602dup	ENSP00000429971.2:p.Asp202GlnfsTer3
ENST00000523444.2:c.571_602dup	ENSP00000428252.2:p.Asp202GlnfsTer3
ENST00000697292.1:c.817_848dup	ENSP00000513229.1:p.Asp284GlnfsTer3
ENST00000697293.1:c.817_848dup	ENSP00000513230.1:p.Asp284GlnfsTer3
ENST00000697294.1:c.*428_*459dup	ENSP00000513231.1:n.*428_*459dup
ENST00000697295.1:c.*126_*157dup	ENSP00000513232.1:n.*126_*157dup
ENST00000697296.1:c.*485_*516dup	ENSP00000513233.1:n.*485_*516dup
ENST00000697297.1:n.2602_2633dup
ENST00000697298.1:c.571_602dup	ENSP00000513234.1:p.Asp202GlnfsTer3
ENST00000697299.1:c.571_602dup	ENSP00000513235.1:p.Asp202GlnfsTer3
ENST00000697300.1:c.*421_*452dup	ENSP00000513236.1:n.*421_*452dup
ENST00000697301.1:c.*338_*369dup	ENSP00000513237.1:n.*338_*369dup
ENST00000697302.1:c.*338_*369dup	ENSP00000513238.1:n.*338_*369dup
ENST00000697303.1:c.*421_*452dup	ENSP00000513239.1:n.*421_*452dup
ENST00000697304.1:c.585-5936_585-5905dup	ENSP00000513240.1:n.585-5936_585-5905dup
ENST00000697306.1:c.480+10291_480+10322dup	ENSP00000513241.1:n.480+10291_480+10322dup
ENST00000697307.1:c.817_848dup	ENSP00000513242.1:p.Asp284GlnfsTer3
ENST00000697308.1:c.817_848dup	ENSP00000513243.1:p.Asp284GlnfsTer3
ENST00000697309.1:c.817_848dup	ENSP00000513244.1:p.Asp284GlnfsTer3
ENST00000697310.1:c.817_848dup	ENSP00000513245.1:p.Asp284GlnfsTer3
ENST00000697311.1:c.817_848dup	ENSP00000513246.1:p.Asp284GlnfsTer3
ENST00000697312.1:c.*215_*246dup	ENSP00000513247.1:n.*215_*246dup
ENST00000697313.1:n.2608_2639dup
ENST00000697314.1:n.2608_2639dup
ENST00000697315.1:c.817_848dup	ENSP00000513248.1:p.Asp284GlnfsTer3
ENST00000697316.1:n.938_969dup
ENST00000697317.1:n.927_958dup
ENST00000697318.1:n.929_960dup
ENST00000265433.8:c.817_848dup MANE Select	ENSP00000265433.4:p.Asp284GlnfsTer3
ENST00000265433.7:c.817_848dup	ENSP00000265433.3:p.Asp284GlnfsTer3
ENST00000396252.6:c.*690_*721dup	ENSP00000379551.2:n.*690_*721dup
ENST00000409330.5:c.571_602dup	ENSP00000386924.1:p.Asp202GlnfsTer3
NM_001024688.2:c.571_602dup	NP_001019859.1:p.Asp202GlnfsTer3
NM_002485.4:c.817_848dup , LRG_158t1:c.817_848dup	NP_002476.2:p.Asp284GlnfsTer3
XM_011517044.1:c.793_824dup	XP_011515346.1:p.Asp276GlnfsTer3
XM_011517045.1:c.571_602dup	XP_011515347.1:p.Asp202GlnfsTer3
XM_011517046.1:c.817_848dup	XP_011515348.1:p.Asp284GlnfsTer3
XR_928335.1:n.954_985dup
XM_017013460.1:c.-63_-32dup	XP_016868949.1:n.-63_-32dup
XM_017013462.2:c.-63_-32dup	XP_016868951.1:n.-63_-32dup
XM_024447163.1:c.571_602dup	XP_024302931.1:p.Asp202GlnfsTer3
XM_024447164.1:c.571_602dup	XP_024302932.1:p.Asp202GlnfsTer3
XM_024447165.1:c.-63_-32dup	XP_024302933.1:n.-63_-32dup
NM_002485.5:c.817_848dup MANE Select	NP_002476.2:p.Asp284GlnfsTer3
NM_001024688.3:c.571_602dup	NP_001019859.1:p.Asp202GlnfsTer3