Canonical Allele Identifier: CA1801422938

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953561_89953565delinsCAGAT , CM000670.2:g.89953561_89953565delinsCAGAT	GRCh38
NC_000008.10:g.90965789_90965793delinsCAGAT , CM000670.1:g.90965789_90965793delinsCAGAT	GRCh37
NC_000008.9:g.91034965_91034969delinsCAGAT	NCBI36
NG_008860.1:g.36107_36111delinsATCTG , LRG_158:g.36107_36111delinsATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2826_2830delinsATCTG
ENST00000517337.2:c.1278_1282delinsATCTG	ENSP00000429971.2:p.Leu426=
ENST00000523444.2:c.1278_1282delinsATCTG	ENSP00000428252.2:p.Leu426=
ENST00000697292.1:c.1524_1528delinsATCTG	ENSP00000513229.1:p.Leu508=
ENST00000697293.1:c.1524_1528delinsATCTG	ENSP00000513230.1:p.Leu508=
ENST00000697294.1:c.*1135_*1139delinsATCTG	ENSP00000513231.1:n.*1135_*1139delinsATCTG
ENST00000697295.1:c.*833_*837delinsATCTG	ENSP00000513232.1:n.*833_*837delinsATCTG
ENST00000697296.1:c.*1192_*1196delinsATCTG	ENSP00000513233.1:n.*1192_*1196delinsATCTG
ENST00000697297.1:n.3309_3313delinsATCTG
ENST00000697298.1:c.1278_1282delinsATCTG	ENSP00000513234.1:p.Leu426=
ENST00000697299.1:c.1278_1282delinsATCTG	ENSP00000513235.1:p.Leu426=
ENST00000697300.1:c.*1128_*1132delinsATCTG	ENSP00000513236.1:n.*1128_*1132delinsATCTG
ENST00000697301.1:c.*1045_*1049delinsATCTG	ENSP00000513237.1:n.*1045_*1049delinsATCTG
ENST00000697302.1:c.*1045_*1049delinsATCTG	ENSP00000513238.1:n.*1045_*1049delinsATCTG
ENST00000697303.1:c.*1128_*1132delinsATCTG	ENSP00000513239.1:n.*1128_*1132delinsATCTG
ENST00000697304.1:c.1212_1216delinsATCTG	ENSP00000513240.1:p.Leu404=
ENST00000697306.1:c.*524_*528delinsATCTG	ENSP00000513241.1:n.*524_*528delinsATCTG
ENST00000697307.1:c.1524_1528delinsATCTG	ENSP00000513242.1:p.Leu508=
ENST00000697308.1:c.1524_1528delinsATCTG	ENSP00000513243.1:p.Leu508=
ENST00000697309.1:c.1524_1528delinsATCTG	ENSP00000513244.1:p.Leu508=
ENST00000697310.1:c.1524_1528delinsATCTG	ENSP00000513245.1:p.Leu508=
ENST00000697311.1:c.1524_1528delinsATCTG	ENSP00000513246.1:p.Leu508=
ENST00000697312.1:c.*922_*926delinsATCTG	ENSP00000513247.1:n.*922_*926delinsATCTG
ENST00000697313.1:n.2687+16799_2687+16803delinsATCTG
ENST00000697314.1:n.3315_3319delinsATCTG
ENST00000697315.1:c.1524_1528delinsATCTG	ENSP00000513248.1:p.Leu508=
ENST00000697316.1:n.1645_1649delinsATCTG
ENST00000697317.1:n.1634_1638delinsATCTG
ENST00000697318.1:n.1636_1640delinsATCTG
ENST00000265433.8:c.1524_1528delinsATCTG MANE Select	ENSP00000265433.4:p.Leu508=
ENST00000265433.7:c.1524_1528delinsATCTG	ENSP00000265433.3:p.Leu508=
ENST00000396252.6:c.*1397_*1401delinsATCTG	ENSP00000379551.2:n.*1397_*1401delinsATCTG
ENST00000409330.5:c.1278_1282delinsATCTG	ENSP00000386924.1:p.Leu426=
NM_001024688.2:c.1278_1282delinsATCTG	NP_001019859.1:p.Leu426=
NM_002485.4:c.1524_1528delinsATCTG , LRG_158t1:c.1524_1528delinsATCTG	NP_002476.2:p.Leu508=
XM_011517044.1:c.1500_1504delinsATCTG	XP_011515346.1:p.Leu500=
XM_011517045.1:c.1278_1282delinsATCTG	XP_011515347.1:p.Leu426=
XR_928335.1:n.1663_1667delinsATCTG
XM_017013460.1:c.645_649delinsATCTG	XP_016868949.1:p.Leu215=
XM_017013462.2:c.645_649delinsATCTG	XP_016868951.1:p.Leu215=
XM_024447163.1:c.1278_1282delinsATCTG	XP_024302931.1:p.Leu426=
XM_024447164.1:c.1278_1282delinsATCTG	XP_024302932.1:p.Leu426=
XM_024447165.1:c.645_649delinsATCTG	XP_024302933.1:p.Leu215=
NM_002485.5:c.1524_1528delinsATCTG MANE Select	NP_002476.2:p.Leu508=
NM_001024688.3:c.1278_1282delinsATCTG	NP_001019859.1:p.Leu426=