Canonical Allele Identifier: CA1801505667

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970450_89970452delinsAAC , CM000670.2:g.89970450_89970452delinsAAC	GRCh38
NC_000008.10:g.90982678_90982680delinsAAC , CM000670.1:g.90982678_90982680delinsAAC	GRCh37
NC_000008.9:g.91051854_91051856delinsAAC	NCBI36
NG_008860.1:g.19220_19222delinsGTT , LRG_158:g.19220_19222delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2110_2112delinsGTT
ENST00000517337.2:c.562_564delinsGTT	ENSP00000429971.2:p.Val188=
ENST00000523444.2:c.562_564delinsGTT	ENSP00000428252.2:p.Val188=
ENST00000697292.1:c.808_810delinsGTT	ENSP00000513229.1:p.Val270=
ENST00000697293.1:c.808_810delinsGTT	ENSP00000513230.1:p.Val270=
ENST00000697294.1:c.*419_*421delinsGTT	ENSP00000513231.1:n.*419_*421delinsGTT
ENST00000697295.1:c.*117_*119delinsGTT	ENSP00000513232.1:n.*117_*119delinsGTT
ENST00000697296.1:c.*476_*478delinsGTT	ENSP00000513233.1:n.*476_*478delinsGTT
ENST00000697297.1:n.2593_2595delinsGTT
ENST00000697298.1:c.562_564delinsGTT	ENSP00000513234.1:p.Val188=
ENST00000697299.1:c.562_564delinsGTT	ENSP00000513235.1:p.Val188=
ENST00000697300.1:c.*412_*414delinsGTT	ENSP00000513236.1:n.*412_*414delinsGTT
ENST00000697301.1:c.*329_*331delinsGTT	ENSP00000513237.1:n.*329_*331delinsGTT
ENST00000697302.1:c.*329_*331delinsGTT	ENSP00000513238.1:n.*329_*331delinsGTT
ENST00000697303.1:c.*412_*414delinsGTT	ENSP00000513239.1:n.*412_*414delinsGTT
ENST00000697304.1:c.585-5945_585-5943delinsGTT	ENSP00000513240.1:n.585-5945_585-5943delinsGTT
ENST00000697306.1:c.480+10282_480+10284delinsGTT	ENSP00000513241.1:n.480+10282_480+10284delinsGTT
ENST00000697307.1:c.808_810delinsGTT	ENSP00000513242.1:p.Val270=
ENST00000697308.1:c.808_810delinsGTT	ENSP00000513243.1:p.Val270=
ENST00000697309.1:c.808_810delinsGTT	ENSP00000513244.1:p.Val270=
ENST00000697310.1:c.808_810delinsGTT	ENSP00000513245.1:p.Val270=
ENST00000697311.1:c.808_810delinsGTT	ENSP00000513246.1:p.Val270=
ENST00000697312.1:c.*206_*208delinsGTT	ENSP00000513247.1:n.*206_*208delinsGTT
ENST00000697313.1:n.2599_2601delinsGTT
ENST00000697314.1:n.2599_2601delinsGTT
ENST00000697315.1:c.808_810delinsGTT	ENSP00000513248.1:p.Val270=
ENST00000697316.1:n.929_931delinsGTT
ENST00000697317.1:n.918_920delinsGTT
ENST00000697318.1:n.920_922delinsGTT
ENST00000265433.8:c.808_810delinsGTT MANE Select	ENSP00000265433.4:p.Val270=
ENST00000265433.7:c.808_810delinsGTT	ENSP00000265433.3:p.Val270=
ENST00000396252.6:c.*681_*683delinsGTT	ENSP00000379551.2:n.*681_*683delinsGTT
ENST00000409330.5:c.562_564delinsGTT	ENSP00000386924.1:p.Val188=
NM_001024688.2:c.562_564delinsGTT	NP_001019859.1:p.Val188=
NM_002485.4:c.808_810delinsGTT , LRG_158t1:c.808_810delinsGTT	NP_002476.2:p.Val270=
XM_011517044.1:c.784_786delinsGTT	XP_011515346.1:p.Val262=
XM_011517045.1:c.562_564delinsGTT	XP_011515347.1:p.Val188=
XM_011517046.1:c.808_810delinsGTT	XP_011515348.1:p.Val270=
XR_928335.1:n.945_947delinsGTT
XM_017013460.1:c.-72_-70delinsGTT	XP_016868949.1:n.-72_-70delinsGTT
XM_017013462.2:c.-72_-70delinsGTT	XP_016868951.1:n.-72_-70delinsGTT
XM_024447163.1:c.562_564delinsGTT	XP_024302931.1:p.Val188=
XM_024447164.1:c.562_564delinsGTT	XP_024302932.1:p.Val188=
XM_024447165.1:c.-72_-70delinsGTT	XP_024302933.1:n.-72_-70delinsGTT
NM_002485.5:c.808_810delinsGTT MANE Select	NP_002476.2:p.Val270=
NM_001024688.3:c.562_564delinsGTT	NP_001019859.1:p.Val188=