Canonical Allele Identifier: CA181273038

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943048_89943053del , CM000670.2:g.89943048_89943053del	GRCh38
NC_000008.10:g.90955276_90955281del , CM000670.1:g.90955276_90955281del	GRCh37
NC_000008.9:g.91024452_91024457del	NCBI36
NG_008860.1:g.46628_46633del , LRG_158:g.46628_46633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3486+209_3486+214del
ENST00000517337.2:c.1938+209_1938+214del	ENSP00000429971.2:n.1938+209_1938+214del
ENST00000523444.2:c.1938+209_1938+214del	ENSP00000428252.2:n.1938+209_1938+214del
ENST00000697292.1:c.2184+209_2184+214del	ENSP00000513229.1:n.2184+209_2184+214del
ENST00000697293.1:c.2185-205_2185-200del	ENSP00000513230.1:n.2185-205_2185-200del
ENST00000697294.1:c.*1795+209_*1795+214del	ENSP00000513231.1:n.*1795+209_*1795+214del
ENST00000697295.1:c.*1493+209_*1493+214del	ENSP00000513232.1:n.*1493+209_*1493+214del
ENST00000697296.1:c.*1852+209_*1852+214del	ENSP00000513233.1:n.*1852+209_*1852+214del
ENST00000697297.1:n.3969+209_3969+214del
ENST00000697298.1:c.1938+209_1938+214del	ENSP00000513234.1:n.1938+209_1938+214del
ENST00000697299.1:c.1938+209_1938+214del	ENSP00000513235.1:n.1938+209_1938+214del
ENST00000697300.1:c.*1788+209_*1788+214del	ENSP00000513236.1:n.*1788+209_*1788+214del
ENST00000697301.1:c.*1705+209_*1705+214del	ENSP00000513237.1:n.*1705+209_*1705+214del
ENST00000697302.1:c.*1705+209_*1705+214del	ENSP00000513238.1:n.*1705+209_*1705+214del
ENST00000697303.1:c.*1788+209_*1788+214del	ENSP00000513239.1:n.*1788+209_*1788+214del
ENST00000697304.1:c.1872+209_1872+214del	ENSP00000513240.1:n.1872+209_1872+214del
ENST00000697305.1:n.2451+209_2451+214del
ENST00000697306.1:c.*2735+209_*2735+214del	ENSP00000513241.1:n.*2735+209_*2735+214del
ENST00000697307.1:c.1959+209_1959+214del	ENSP00000513242.1:n.1959+209_1959+214del
ENST00000697308.1:c.2115+209_2115+214del	ENSP00000513243.1:n.2115+209_2115+214del
ENST00000697309.1:c.2184+209_2184+214del	ENSP00000513244.1:n.2184+209_2184+214del
ENST00000697310.1:c.2184+209_2184+214del	ENSP00000513245.1:n.2184+209_2184+214del
ENST00000697311.1:c.*194_*199del	ENSP00000513246.1:n.*194_*199del
ENST00000697312.1:c.*1582+209_*1582+214del	ENSP00000513247.1:n.*1582+209_*1582+214del
ENST00000697313.1:n.2688-7432_2688-7427del
ENST00000697314.1:n.3637-7432_3637-7427del
ENST00000697315.1:c.2184+209_2184+214del	ENSP00000513248.1:n.2184+209_2184+214del
ENST00000697316.1:n.2305+209_2305+214del
ENST00000265433.8:c.2184+209_2184+214del MANE Select	ENSP00000265433.4:n.2184+209_2184+214del
ENST00000265433.7:c.2184+209_2184+214del	ENSP00000265433.3:n.2184+209_2184+214del
ENST00000396252.6:c.*2057+209_*2057+214del	ENSP00000379551.2:n.*2057+209_*2057+214del
ENST00000409330.5:c.1938+209_1938+214del	ENSP00000386924.1:n.1938+209_1938+214del
ENST00000613033.1:c.294+209_294+214del	ENSP00000484487.1:n.294+209_294+214del
NM_001024688.2:c.1938+209_1938+214del	NP_001019859.1:n.1938+209_1938+214del
NM_002485.4:c.2184+209_2184+214del , LRG_158t1:c.2184+209_2184+214del	NP_002476.2:n.2184+209_2184+214del
XM_011517044.1:c.2160+209_2160+214del	XP_011515346.1:n.2160+209_2160+214del
XM_011517045.1:c.1938+209_1938+214del	XP_011515347.1:n.1938+209_1938+214del
XM_017013460.1:c.1305+209_1305+214del	XP_016868949.1:n.1305+209_1305+214del
XM_017013462.2:c.1305+209_1305+214del	XP_016868951.1:n.1305+209_1305+214del
XM_024447163.1:c.1938+209_1938+214del	XP_024302931.1:n.1938+209_1938+214del
XM_024447164.1:c.1938+209_1938+214del	XP_024302932.1:n.1938+209_1938+214del
XM_024447165.1:c.1305+209_1305+214del	XP_024302933.1:n.1305+209_1305+214del
NM_002485.5:c.2184+209_2184+214del MANE Select	NP_002476.2:n.2184+209_2184+214del
NM_001024688.3:c.1938+209_1938+214del	NP_001019859.1:n.1938+209_1938+214del