Canonical Allele Identifier: CA2697550009

Gene: NBN

Linked Data

• ClinVar Variation Id: 2696621
• ClinVar RCV Id: RCV003507608

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980834_89980835delinsTA , CM000670.2:g.89980834_89980835delinsTA	GRCh38
NC_000008.10:g.90993062_90993063delinsTA , CM000670.1:g.90993062_90993063delinsTA	GRCh37
NC_000008.9:g.91062238_91062239delinsTA	NCBI36
NG_008860.1:g.8837_8838delinsTA , LRG_158:g.8837_8838delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1681_1682delinsTA
ENST00000517337.2:c.133_134delinsTA	ENSP00000429971.2:p.Ala45Tyr
ENST00000523444.2:c.133_134delinsTA	ENSP00000428252.2:p.Ala45Tyr
ENST00000697292.1:c.379_380delinsTA	ENSP00000513229.1:p.Ala127Tyr
ENST00000697293.1:c.379_380delinsTA	ENSP00000513230.1:p.Ala127Tyr
ENST00000697294.1:c.338_339delinsTA	ENSP00000513231.1:p.Cys113Leu
ENST00000697295.1:c.37+3690_37+3691delinsTA	ENSP00000513232.1:n.37+3690_37+3691delinsTA
ENST00000697296.1:c.*47_*48delinsTA	ENSP00000513233.1:n.*47_*48delinsTA
ENST00000697297.1:n.2164_2165delinsTA
ENST00000697298.1:c.133_134delinsTA	ENSP00000513234.1:p.Ala45Tyr
ENST00000697299.1:c.133_134delinsTA	ENSP00000513235.1:p.Ala45Tyr
ENST00000697300.1:c.133_134delinsTA	ENSP00000513236.1:p.Ala45Tyr
ENST00000697301.1:c.92_93delinsTA	ENSP00000513237.1:p.Cys31Leu
ENST00000697302.1:c.338_339delinsTA	ENSP00000513238.1:p.Cys113Leu
ENST00000697303.1:c.379_380delinsTA	ENSP00000513239.1:p.Ala127Tyr
ENST00000697304.1:c.379_380delinsTA	ENSP00000513240.1:p.Ala127Tyr
ENST00000697306.1:c.379_380delinsTA	ENSP00000513241.1:p.Ala127Tyr
ENST00000697307.1:c.379_380delinsTA	ENSP00000513242.1:p.Ala127Tyr
ENST00000697308.1:c.379_380delinsTA	ENSP00000513243.1:p.Ala127Tyr
ENST00000697309.1:c.379_380delinsTA	ENSP00000513244.1:p.Ala127Tyr
ENST00000697310.1:c.379_380delinsTA	ENSP00000513245.1:p.Ala127Tyr
ENST00000697311.1:c.379_380delinsTA	ENSP00000513246.1:p.Ala127Tyr
ENST00000697312.1:c.379_380delinsTA	ENSP00000513247.1:p.Ala127Tyr
ENST00000697313.1:n.2170_2171delinsTA
ENST00000697314.1:n.2170_2171delinsTA
ENST00000697315.1:c.379_380delinsTA	ENSP00000513248.1:p.Ala127Tyr
ENST00000697316.1:n.500_501delinsTA
ENST00000697317.1:n.489_490delinsTA
ENST00000697318.1:n.491_492delinsTA
ENST00000265433.8:c.379_380delinsTA MANE Select	ENSP00000265433.4:p.Ala127Tyr
ENST00000265433.7:c.379_380delinsTA	ENSP00000265433.3:p.Ala127Tyr
ENST00000396252.6:c.*252_*253delinsTA	ENSP00000379551.2:n.*252_*253delinsTA
ENST00000409330.5:c.133_134delinsTA	ENSP00000386924.1:p.Ala45Tyr
ENST00000517337.1:c.133_134delinsTA	ENSP00000429971.1:p.Ala45Tyr
ENST00000517772.5:c.133_134delinsTA	ENSP00000428717.1:p.Ala45Tyr
ENST00000519426.5:c.320+540_320+541delinsTA	ENSP00000430983.1:n.320+540_320+541delinsTA
ENST00000523444.1:c.*211_*212delinsTA	ENSP00000428252.1:n.*211_*212delinsTA
NM_001024688.2:c.133_134delinsTA	NP_001019859.1:p.Ala45Tyr
NM_002485.4:c.379_380delinsTA , LRG_158t1:c.379_380delinsTA	NP_002476.2:p.Ala127Tyr
XM_011517044.1:c.355_356delinsTA	XP_011515346.1:p.Ala119Tyr
XM_011517045.1:c.133_134delinsTA	XP_011515347.1:p.Ala45Tyr
XM_011517046.1:c.379_380delinsTA	XP_011515348.1:p.Ala127Tyr
XR_928335.1:n.516_517delinsTA
XM_017013460.1:c.-591_-590delinsTA	XP_016868949.1:n.-591_-590delinsTA
XM_017013462.2:c.-397_-396delinsTA	XP_016868951.1:n.-397_-396delinsTA
XM_024447163.1:c.133_134delinsTA	XP_024302931.1:p.Ala45Tyr
XM_024447164.1:c.133_134delinsTA	XP_024302932.1:p.Ala45Tyr
XM_024447165.1:c.-591_-590delinsTA	XP_024302933.1:n.-591_-590delinsTA
NM_002485.5:c.379_380delinsTA MANE Select	NP_002476.2:p.Ala127Tyr
NM_001024688.3:c.133_134delinsTA	NP_001019859.1:p.Ala45Tyr