Canonical Allele Identifier: CA1801507648

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971271_89971273delinsCAT , CM000670.2:g.89971271_89971273delinsCAT	GRCh38
NC_000008.10:g.90983499_90983501delinsCAT , CM000670.1:g.90983499_90983501delinsCAT	GRCh37
NC_000008.9:g.91052675_91052677delinsCAT	NCBI36
NG_008860.1:g.18399_18401delinsATG , LRG_158:g.18399_18401delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1904_1906delinsATG
ENST00000517337.2:c.356_358delinsATG	ENSP00000429971.2:p.Asp119=
ENST00000523444.2:c.356_358delinsATG	ENSP00000428252.2:p.Asp119=
ENST00000697292.1:c.602_604delinsATG	ENSP00000513229.1:p.Asp201=
ENST00000697293.1:c.602_604delinsATG	ENSP00000513230.1:p.Asp201=
ENST00000697294.1:c.*213_*215delinsATG	ENSP00000513231.1:n.*213_*215delinsATG
ENST00000697295.1:c.55_57delinsATG	ENSP00000513232.1:p.Met19=
ENST00000697296.1:c.*270_*272delinsATG	ENSP00000513233.1:n.*270_*272delinsATG
ENST00000697297.1:n.2387_2389delinsATG
ENST00000697298.1:c.356_358delinsATG	ENSP00000513234.1:p.Asp119=
ENST00000697299.1:c.356_358delinsATG	ENSP00000513235.1:p.Asp119=
ENST00000697300.1:c.*206_*208delinsATG	ENSP00000513236.1:n.*206_*208delinsATG
ENST00000697301.1:c.*123_*125delinsATG	ENSP00000513237.1:n.*123_*125delinsATG
ENST00000697302.1:c.*123_*125delinsATG	ENSP00000513238.1:n.*123_*125delinsATG
ENST00000697303.1:c.*206_*208delinsATG	ENSP00000513239.1:n.*206_*208delinsATG
ENST00000697304.1:c.585-6766_585-6764delinsATG	ENSP00000513240.1:n.585-6766_585-6764delinsATG
ENST00000697306.1:c.480+9461_480+9463delinsATG	ENSP00000513241.1:n.480+9461_480+9463delinsATG
ENST00000697307.1:c.602_604delinsATG	ENSP00000513242.1:p.Asp201=
ENST00000697308.1:c.602_604delinsATG	ENSP00000513243.1:p.Asp201=
ENST00000697309.1:c.602_604delinsATG	ENSP00000513244.1:p.Asp201=
ENST00000697310.1:c.602_604delinsATG	ENSP00000513245.1:p.Asp201=
ENST00000697311.1:c.602_604delinsATG	ENSP00000513246.1:p.Asp201=
ENST00000697312.1:c.498_*2delinsATG	ENSP00000513247.1:n.[c.498_*2delinsATG;Ter166=]
ENST00000697313.1:n.2393_2395delinsATG
ENST00000697314.1:n.2393_2395delinsATG
ENST00000697315.1:c.602_604delinsATG	ENSP00000513248.1:p.Asp201=
ENST00000697316.1:n.723_725delinsATG
ENST00000697317.1:n.712_714delinsATG
ENST00000697318.1:n.714_716delinsATG
ENST00000265433.8:c.602_604delinsATG MANE Select	ENSP00000265433.4:p.Asp201=
ENST00000265433.7:c.602_604delinsATG	ENSP00000265433.3:p.Asp201=
ENST00000396252.6:c.*475_*477delinsATG	ENSP00000379551.2:n.*475_*477delinsATG
ENST00000409330.5:c.356_358delinsATG	ENSP00000386924.1:p.Asp119=
ENST00000517772.5:c.356_358delinsATG	ENSP00000428717.1:p.Asp119=
ENST00000519426.5:c.338_340delinsATG	ENSP00000430983.1:p.Asp113=
NM_001024688.2:c.356_358delinsATG	NP_001019859.1:p.Asp119=
NM_002485.4:c.602_604delinsATG , LRG_158t1:c.602_604delinsATG	NP_002476.2:p.Asp201=
XM_011517044.1:c.578_580delinsATG	XP_011515346.1:p.Asp193=
XM_011517045.1:c.356_358delinsATG	XP_011515347.1:p.Asp119=
XM_011517046.1:c.602_604delinsATG	XP_011515348.1:p.Asp201=
XR_928335.1:n.739_741delinsATG
XM_017013460.1:c.-278_-276delinsATG	XP_016868949.1:n.-278_-276delinsATG
XM_017013462.2:c.-278_-276delinsATG	XP_016868951.1:n.-278_-276delinsATG
XM_024447163.1:c.356_358delinsATG	XP_024302931.1:p.Asp119=
XM_024447164.1:c.356_358delinsATG	XP_024302932.1:p.Asp119=
XM_024447165.1:c.-278_-276delinsATG	XP_024302933.1:n.-278_-276delinsATG
NM_002485.5:c.602_604delinsATG MANE Select	NP_002476.2:p.Asp201=
NM_001024688.3:c.356_358delinsATG	NP_001019859.1:p.Asp119=