Canonical Allele Identifier: CA1801471087

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984550_89984551delinsCA , CM000670.2:g.89984550_89984551delinsCA	GRCh38
NC_000008.10:g.90996778_90996779delinsCA , CM000670.1:g.90996778_90996779delinsCA	GRCh37
NC_000008.9:g.91065954_91065955delinsCA	NCBI36
NG_008860.1:g.5121_5122delinsTG , LRG_158:g.5121_5122delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.115_116delinsTG
ENST00000523444.2:c.-286_-285delinsTG	ENSP00000428252.2:n.-286_-285delinsTG
ENST00000697292.1:c.11_12delinsTG	ENSP00000513229.1:p.Leu4=
ENST00000697293.1:c.11_12delinsTG	ENSP00000513230.1:p.Leu4=
ENST00000697294.1:c.11_12delinsTG	ENSP00000513231.1:p.Leu4=
ENST00000697295.1:c.11_12delinsTG	ENSP00000513232.1:p.Leu4=
ENST00000697296.1:c.11_12delinsTG	ENSP00000513233.1:p.Leu4=
ENST00000697297.1:n.117_118delinsTG
ENST00000697298.1:c.-469_-468delinsTG	ENSP00000513234.1:n.-469_-468delinsTG
ENST00000697299.1:c.-102_-101delinsTG	ENSP00000513235.1:n.-102_-101delinsTG
ENST00000697300.1:c.-286_-285delinsTG	ENSP00000513236.1:n.-286_-285delinsTG
ENST00000697301.1:c.-286_-285delinsTG	ENSP00000513237.1:n.-286_-285delinsTG
ENST00000697302.1:c.11_12delinsTG	ENSP00000513238.1:p.Leu4=
ENST00000697303.1:c.11_12delinsTG	ENSP00000513239.1:p.Leu4=
ENST00000697304.1:c.11_12delinsTG	ENSP00000513240.1:p.Leu4=
ENST00000697306.1:c.11_12delinsTG	ENSP00000513241.1:p.Leu4=
ENST00000697307.1:c.11_12delinsTG	ENSP00000513242.1:p.Leu4=
ENST00000697308.1:c.11_12delinsTG	ENSP00000513243.1:p.Leu4=
ENST00000697309.1:c.11_12delinsTG	ENSP00000513244.1:p.Leu4=
ENST00000697310.1:c.11_12delinsTG	ENSP00000513245.1:p.Leu4=
ENST00000697311.1:c.11_12delinsTG	ENSP00000513246.1:p.Leu4=
ENST00000697312.1:c.11_12delinsTG	ENSP00000513247.1:p.Leu4=
ENST00000697313.1:n.123_124delinsTG
ENST00000697314.1:n.123_124delinsTG
ENST00000697315.1:c.11_12delinsTG	ENSP00000513248.1:p.Leu4=
ENST00000697316.1:n.132_133delinsTG
ENST00000697317.1:n.121_122delinsTG
ENST00000697318.1:n.123_124delinsTG
ENST00000265433.8:c.11_12delinsTG MANE Select	ENSP00000265433.4:p.Leu4=
ENST00000265433.7:c.11_12delinsTG	ENSP00000265433.3:p.Leu4=
ENST00000396252.6:c.11_12delinsTG	ENSP00000379551.2:p.Leu4=
ENST00000494804.1:n.115_116delinsTG
ENST00000519426.5:c.11_12delinsTG	ENSP00000430983.1:p.Leu4=
ENST00000523444.1:c.11_12delinsTG	ENSP00000428252.1:p.Leu4=
NM_001024688.2:c.-286_-285delinsTG	NP_001019859.1:n.-286_-285delinsTG
NM_002485.4:c.11_12delinsTG , LRG_158t1:c.11_12delinsTG	NP_002476.2:p.Leu4=
XM_011517046.1:c.11_12delinsTG	XP_011515348.1:p.Leu4=
XR_928335.1:n.148_149delinsTG
XM_017013460.1:c.-1009_-1008delinsTG	XP_016868949.1:n.-1009_-1008delinsTG
XM_017013462.2:c.-815_-814delinsTG	XP_016868951.1:n.-815_-814delinsTG
XM_024447165.1:c.-959_-958delinsTG	XP_024302933.1:n.-959_-958delinsTG
NM_002485.5:c.11_12delinsTG MANE Select	NP_002476.2:p.Leu4=
NM_001024688.3:c.-286_-285delinsTG	NP_001019859.1:n.-286_-285delinsTG