Canonical Allele Identifier: CA1801419365

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89945918A= , CM000670.2:g.89945918A=	GRCh38
NC_000008.10:g.90958146A= , CM000670.1:g.90958146A=	GRCh37
NC_000008.9:g.91027322A=	NCBI36
NG_008860.1:g.43754T= , LRG_158:g.43754T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3372+222T=
ENST00000517337.2:c.1824+222T=	ENSP00000429971.2:n.1824+222T=
ENST00000523444.2:c.1824+222T=	ENSP00000428252.2:n.1824+222T=
ENST00000697292.1:c.2070+222T=	ENSP00000513229.1:n.2070+222T=
ENST00000697293.1:c.2070+222T=	ENSP00000513230.1:n.2070+222T=
ENST00000697294.1:c.*1681+222T=	ENSP00000513231.1:n.*1681+222T=
ENST00000697295.1:c.*1379+222T=	ENSP00000513232.1:n.*1379+222T=
ENST00000697296.1:c.*1738+222T=	ENSP00000513233.1:n.*1738+222T=
ENST00000697297.1:n.3855+222T=
ENST00000697298.1:c.1824+222T=	ENSP00000513234.1:n.1824+222T=
ENST00000697299.1:c.1824+222T=	ENSP00000513235.1:n.1824+222T=
ENST00000697300.1:c.*1674+222T=	ENSP00000513236.1:n.*1674+222T=
ENST00000697301.1:c.*1591+222T=	ENSP00000513237.1:n.*1591+222T=
ENST00000697302.1:c.*1591+222T=	ENSP00000513238.1:n.*1591+222T=
ENST00000697303.1:c.*1674+222T=	ENSP00000513239.1:n.*1674+222T=
ENST00000697304.1:c.1758+222T=	ENSP00000513240.1:n.1758+222T=
ENST00000697306.1:c.*2621+222T=	ENSP00000513241.1:n.*2621+222T=
ENST00000697307.1:c.1846-2552T=	ENSP00000513242.1:n.1846-2552T=
ENST00000697308.1:c.2001+222T=	ENSP00000513243.1:n.2001+222T=
ENST00000697309.1:c.2070+222T=	ENSP00000513244.1:n.2070+222T=
ENST00000697310.1:c.2070+222T=	ENSP00000513245.1:n.2070+222T=
ENST00000697311.1:c.2070+222T=	ENSP00000513246.1:n.2070+222T=
ENST00000697312.1:c.*1468+222T=	ENSP00000513247.1:n.*1468+222T=
ENST00000697313.1:n.2688-10306T=
ENST00000697314.1:n.3636+7326T=
ENST00000697315.1:c.2070+222T=	ENSP00000513248.1:n.2070+222T=
ENST00000697316.1:n.2191+222T=
ENST00000265433.8:c.2070+222T= MANE Select	ENSP00000265433.4:n.2070+222T=
ENST00000265433.7:c.2070+222T=	ENSP00000265433.3:n.2070+222T=
ENST00000396252.6:c.*1943+222T=	ENSP00000379551.2:n.*1943+222T=
ENST00000409330.5:c.1824+222T=	ENSP00000386924.1:n.1824+222T=
ENST00000520325.1:n.486+222T=
ENST00000613033.1:c.180+1906T=	ENSP00000484487.1:n.180+1906T=
NM_001024688.2:c.1824+222T=	NP_001019859.1:n.1824+222T=
NM_002485.4:c.2070+222T= , LRG_158t1:c.2070+222T=	NP_002476.2:n.2070+222T=
XM_011517044.1:c.2046+222T=	XP_011515346.1:n.2046+222T=
XM_011517045.1:c.1824+222T=	XP_011515347.1:n.1824+222T=
XM_017013460.1:c.1191+222T=	XP_016868949.1:n.1191+222T=
XM_017013462.2:c.1191+222T=	XP_016868951.1:n.1191+222T=
XM_024447163.1:c.1824+222T=	XP_024302931.1:n.1824+222T=
XM_024447164.1:c.1824+222T=	XP_024302932.1:n.1824+222T=
XM_024447165.1:c.1191+222T=	XP_024302933.1:n.1191+222T=
NM_002485.5:c.2070+222T= MANE Select	NP_002476.2:n.2070+222T=
NM_001024688.3:c.1824+222T=	NP_001019859.1:n.1824+222T=