Canonical Allele Identifier: CA1801504613

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970086_89970087delinsTA , CM000670.2:g.89970086_89970087delinsTA	GRCh38
NC_000008.10:g.90982314_90982315delinsTA , CM000670.1:g.90982314_90982315delinsTA	GRCh37
NC_000008.9:g.91051490_91051491delinsTA	NCBI36
NG_008860.1:g.19585_19586delinsTA , LRG_158:g.19585_19586delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2198+277_2198+278delinsTA
ENST00000517337.2:c.650+277_650+278delinsTA	ENSP00000429971.2:n.650+277_650+278delinsTA
ENST00000523444.2:c.650+277_650+278delinsTA	ENSP00000428252.2:n.650+277_650+278delinsTA
ENST00000697292.1:c.896+277_896+278delinsTA	ENSP00000513229.1:n.896+277_896+278delinsTA
ENST00000697293.1:c.896+277_896+278delinsTA	ENSP00000513230.1:n.896+277_896+278delinsTA
ENST00000697294.1:c.*507+277_*507+278delinsTA	ENSP00000513231.1:n.*507+277_*507+278delinsTA
ENST00000697295.1:c.*205+277_*205+278delinsTA	ENSP00000513232.1:n.*205+277_*205+278delinsTA
ENST00000697296.1:c.*564+277_*564+278delinsTA	ENSP00000513233.1:n.*564+277_*564+278delinsTA
ENST00000697297.1:n.2681+277_2681+278delinsTA
ENST00000697298.1:c.650+277_650+278delinsTA	ENSP00000513234.1:n.650+277_650+278delinsTA
ENST00000697299.1:c.650+277_650+278delinsTA	ENSP00000513235.1:n.650+277_650+278delinsTA
ENST00000697300.1:c.*500+277_*500+278delinsTA	ENSP00000513236.1:n.*500+277_*500+278delinsTA
ENST00000697301.1:c.*417+277_*417+278delinsTA	ENSP00000513237.1:n.*417+277_*417+278delinsTA
ENST00000697302.1:c.*417+277_*417+278delinsTA	ENSP00000513238.1:n.*417+277_*417+278delinsTA
ENST00000697303.1:c.*500+277_*500+278delinsTA	ENSP00000513239.1:n.*500+277_*500+278delinsTA
ENST00000697304.1:c.585-5580_585-5579delinsTA	ENSP00000513240.1:n.585-5580_585-5579delinsTA
ENST00000697306.1:c.480+10647_480+10648delinsTA	ENSP00000513241.1:n.480+10647_480+10648delinsTA
ENST00000697307.1:c.896+277_896+278delinsTA	ENSP00000513242.1:n.896+277_896+278delinsTA
ENST00000697308.1:c.896+277_896+278delinsTA	ENSP00000513243.1:n.896+277_896+278delinsTA
ENST00000697309.1:c.896+277_896+278delinsTA	ENSP00000513244.1:n.896+277_896+278delinsTA
ENST00000697310.1:c.896+277_896+278delinsTA	ENSP00000513245.1:n.896+277_896+278delinsTA
ENST00000697311.1:c.896+277_896+278delinsTA	ENSP00000513246.1:n.896+277_896+278delinsTA
ENST00000697312.1:c.*294+277_*294+278delinsTA	ENSP00000513247.1:n.*294+277_*294+278delinsTA
ENST00000697313.1:n.2687+277_2687+278delinsTA
ENST00000697314.1:n.2687+277_2687+278delinsTA
ENST00000697315.1:c.896+277_896+278delinsTA	ENSP00000513248.1:n.896+277_896+278delinsTA
ENST00000697316.1:n.1017+277_1017+278delinsTA
ENST00000697317.1:n.1006+277_1006+278delinsTA
ENST00000697318.1:n.1008+277_1008+278delinsTA
ENST00000265433.8:c.896+277_896+278delinsTA MANE Select	ENSP00000265433.4:n.896+277_896+278delinsTA
ENST00000265433.7:c.896+277_896+278delinsTA	ENSP00000265433.3:n.896+277_896+278delinsTA
ENST00000396252.6:c.*769+277_*769+278delinsTA	ENSP00000379551.2:n.*769+277_*769+278delinsTA
ENST00000409330.5:c.650+277_650+278delinsTA	ENSP00000386924.1:n.650+277_650+278delinsTA
NM_001024688.2:c.650+277_650+278delinsTA	NP_001019859.1:n.650+277_650+278delinsTA
NM_002485.4:c.896+277_896+278delinsTA , LRG_158t1:c.896+277_896+278delinsTA	NP_002476.2:n.896+277_896+278delinsTA
XM_011517044.1:c.872+277_872+278delinsTA	XP_011515346.1:n.872+277_872+278delinsTA
XM_011517045.1:c.650+277_650+278delinsTA	XP_011515347.1:n.650+277_650+278delinsTA
XM_011517046.1:c.896+277_896+278delinsTA	XP_011515348.1:n.896+277_896+278delinsTA
XR_928335.1:n.1033+277_1033+278delinsTA
XM_017013460.1:c.17+277_17+278delinsTA	XP_016868949.1:n.17+277_17+278delinsTA
XM_017013462.2:c.17+277_17+278delinsTA	XP_016868951.1:n.17+277_17+278delinsTA
XM_024447163.1:c.650+277_650+278delinsTA	XP_024302931.1:n.650+277_650+278delinsTA
XM_024447164.1:c.650+277_650+278delinsTA	XP_024302932.1:n.650+277_650+278delinsTA
XM_024447165.1:c.17+277_17+278delinsTA	XP_024302933.1:n.17+277_17+278delinsTA
NM_002485.5:c.896+277_896+278delinsTA MANE Select	NP_002476.2:n.896+277_896+278delinsTA
NM_001024688.3:c.650+277_650+278delinsTA	NP_001019859.1:n.650+277_650+278delinsTA