Canonical Allele Identifier: CA2580596426

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943427T>C , CM000670.2:g.89943427T>C	GRCh38
NC_000008.10:g.90955655T>C , CM000670.1:g.90955655T>C	GRCh37
NC_000008.9:g.91024831T>C	NCBI36
NG_008860.1:g.46245A>G , LRG_158:g.46245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3373-61A>G
ENST00000517337.2:c.1825-61A>G	ENSP00000429971.2:n.1825-61A>G
ENST00000523444.2:c.1825-61A>G	ENSP00000428252.2:n.1825-61A>G
ENST00000697292.1:c.2071-61A>G	ENSP00000513229.1:n.2071-61A>G
ENST00000697293.1:c.2071-61A>G	ENSP00000513230.1:n.2071-61A>G
ENST00000697294.1:c.*1682-61A>G	ENSP00000513231.1:n.*1682-61A>G
ENST00000697295.1:c.*1380-61A>G	ENSP00000513232.1:n.*1380-61A>G
ENST00000697296.1:c.*1739-61A>G	ENSP00000513233.1:n.*1739-61A>G
ENST00000697297.1:n.3856-61A>G
ENST00000697298.1:c.1825-61A>G	ENSP00000513234.1:n.1825-61A>G
ENST00000697299.1:c.1825-61A>G	ENSP00000513235.1:n.1825-61A>G
ENST00000697300.1:c.*1675-61A>G	ENSP00000513236.1:n.*1675-61A>G
ENST00000697301.1:c.*1592-61A>G	ENSP00000513237.1:n.*1592-61A>G
ENST00000697302.1:c.*1592-61A>G	ENSP00000513238.1:n.*1592-61A>G
ENST00000697303.1:c.*1675-61A>G	ENSP00000513239.1:n.*1675-61A>G
ENST00000697304.1:c.1759-61A>G	ENSP00000513240.1:n.1759-61A>G
ENST00000697305.1:n.2277A>G
ENST00000697306.1:c.*2622-61A>G	ENSP00000513241.1:n.*2622-61A>G
ENST00000697307.1:c.1846-61A>G	ENSP00000513242.1:n.1846-61A>G
ENST00000697308.1:c.2002-61A>G	ENSP00000513243.1:n.2002-61A>G
ENST00000697309.1:c.2071-61A>G	ENSP00000513244.1:n.2071-61A>G
ENST00000697310.1:c.2071-61A>G	ENSP00000513245.1:n.2071-61A>G
ENST00000697311.1:c.2071-61A>G	ENSP00000513246.1:n.2071-61A>G
ENST00000697312.1:c.*1469-61A>G	ENSP00000513247.1:n.*1469-61A>G
ENST00000697313.1:n.2688-7815A>G
ENST00000697314.1:n.3637-7815A>G
ENST00000697315.1:c.2071-61A>G	ENSP00000513248.1:n.2071-61A>G
ENST00000697316.1:n.2192-61A>G
ENST00000265433.8:c.2071-61A>G MANE Select	ENSP00000265433.4:n.2071-61A>G
ENST00000265433.7:c.2071-61A>G	ENSP00000265433.3:n.2071-61A>G
ENST00000396252.6:c.*1944-61A>G	ENSP00000379551.2:n.*1944-61A>G
ENST00000409330.5:c.1825-61A>G	ENSP00000386924.1:n.1825-61A>G
ENST00000520325.1:n.487-61A>G
ENST00000613033.1:c.181-61A>G	ENSP00000484487.1:n.181-61A>G
NM_001024688.2:c.1825-61A>G	NP_001019859.1:n.1825-61A>G
NM_002485.4:c.2071-61A>G , LRG_158t1:c.2071-61A>G	NP_002476.2:n.2071-61A>G
XM_011517044.1:c.2047-61A>G	XP_011515346.1:n.2047-61A>G
XM_011517045.1:c.1825-61A>G	XP_011515347.1:n.1825-61A>G
XM_017013460.1:c.1192-61A>G	XP_016868949.1:n.1192-61A>G
XM_017013462.2:c.1192-61A>G	XP_016868951.1:n.1192-61A>G
XM_024447163.1:c.1825-61A>G	XP_024302931.1:n.1825-61A>G
XM_024447164.1:c.1825-61A>G	XP_024302932.1:n.1825-61A>G
XM_024447165.1:c.1192-61A>G	XP_024302933.1:n.1192-61A>G
NM_002485.5:c.2071-61A>G MANE Select	NP_002476.2:n.2071-61A>G
NM_001024688.3:c.1825-61A>G	NP_001019859.1:n.1825-61A>G