Canonical Allele Identifier: CA1801419599

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946340_89946344delinsCAAAG , CM000670.2:g.89946340_89946344delinsCAAAG	GRCh38
NC_000008.10:g.90958568_90958572delinsCAAAG , CM000670.1:g.90958568_90958572delinsCAAAG	GRCh37
NC_000008.9:g.91027744_91027748delinsCAAAG	NCBI36
NG_008860.1:g.43328_43332delinsCTTTG , LRG_158:g.43328_43332delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-49_3217-45delinsCTTTG
ENST00000517337.2:c.1669-49_1669-45delinsCTTTG	ENSP00000429971.2:n.1669-49_1669-45delinsCTTTG
ENST00000523444.2:c.1669-49_1669-45delinsCTTTG	ENSP00000428252.2:n.1669-49_1669-45delinsCTTTG
ENST00000697292.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513229.1:n.1915-49_1915-45delinsCTTTG
ENST00000697293.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513230.1:n.1915-49_1915-45delinsCTTTG
ENST00000697294.1:c.*1526-49_*1526-45delinsCTTTG	ENSP00000513231.1:n.*1526-49_*1526-45delinsCTTTG
ENST00000697295.1:c.*1224-49_*1224-45delinsCTTTG	ENSP00000513232.1:n.*1224-49_*1224-45delinsCTTTG
ENST00000697296.1:c.*1583-49_*1583-45delinsCTTTG	ENSP00000513233.1:n.*1583-49_*1583-45delinsCTTTG
ENST00000697297.1:n.3700-49_3700-45delinsCTTTG
ENST00000697298.1:c.1669-49_1669-45delinsCTTTG	ENSP00000513234.1:n.1669-49_1669-45delinsCTTTG
ENST00000697299.1:c.1669-49_1669-45delinsCTTTG	ENSP00000513235.1:n.1669-49_1669-45delinsCTTTG
ENST00000697300.1:c.*1519-49_*1519-45delinsCTTTG	ENSP00000513236.1:n.*1519-49_*1519-45delinsCTTTG
ENST00000697301.1:c.*1436-49_*1436-45delinsCTTTG	ENSP00000513237.1:n.*1436-49_*1436-45delinsCTTTG
ENST00000697302.1:c.*1436-49_*1436-45delinsCTTTG	ENSP00000513238.1:n.*1436-49_*1436-45delinsCTTTG
ENST00000697303.1:c.*1519-49_*1519-45delinsCTTTG	ENSP00000513239.1:n.*1519-49_*1519-45delinsCTTTG
ENST00000697304.1:c.1603-49_1603-45delinsCTTTG	ENSP00000513240.1:n.1603-49_1603-45delinsCTTTG
ENST00000697306.1:c.*2417_*2421delinsCTTTG	ENSP00000513241.1:n.*2417_*2421delinsCTTTG
ENST00000697307.1:c.1846-2978_1846-2974delinsCTTTG	ENSP00000513242.1:n.1846-2978_1846-2974delinsCTTTG
ENST00000697308.1:c.1846-49_1846-45delinsCTTTG	ENSP00000513243.1:n.1846-49_1846-45delinsCTTTG
ENST00000697309.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513244.1:n.1915-49_1915-45delinsCTTTG
ENST00000697310.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513245.1:n.1915-49_1915-45delinsCTTTG
ENST00000697311.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513246.1:n.1915-49_1915-45delinsCTTTG
ENST00000697312.1:c.*1313-49_*1313-45delinsCTTTG	ENSP00000513247.1:n.*1313-49_*1313-45delinsCTTTG
ENST00000697313.1:n.2688-10732_2688-10728delinsCTTTG
ENST00000697314.1:n.3636+6900_3636+6904delinsCTTTG
ENST00000697315.1:c.1915-49_1915-45delinsCTTTG	ENSP00000513248.1:n.1915-49_1915-45delinsCTTTG
ENST00000697316.1:n.2036-49_2036-45delinsCTTTG
ENST00000697317.1:n.2006-49_2006-45delinsCTTTG
ENST00000265433.8:c.1915-49_1915-45delinsCTTTG MANE Select	ENSP00000265433.4:n.1915-49_1915-45delinsCTTTG
ENST00000265433.7:c.1915-49_1915-45delinsCTTTG	ENSP00000265433.3:n.1915-49_1915-45delinsCTTTG
ENST00000396252.6:c.*1788-49_*1788-45delinsCTTTG	ENSP00000379551.2:n.*1788-49_*1788-45delinsCTTTG
ENST00000409330.5:c.1669-49_1669-45delinsCTTTG	ENSP00000386924.1:n.1669-49_1669-45delinsCTTTG
ENST00000520325.1:n.282_286delinsCTTTG
ENST00000613033.1:c.180+1480_180+1484delinsCTTTG	ENSP00000484487.1:n.180+1480_180+1484delinsCTTTG
NM_001024688.2:c.1669-49_1669-45delinsCTTTG	NP_001019859.1:n.1669-49_1669-45delinsCTTTG
NM_002485.4:c.1915-49_1915-45delinsCTTTG , LRG_158t1:c.1915-49_1915-45delinsCTTTG	NP_002476.2:n.1915-49_1915-45delinsCTTTG
XM_011517044.1:c.1891-49_1891-45delinsCTTTG	XP_011515346.1:n.1891-49_1891-45delinsCTTTG
XM_011517045.1:c.1669-49_1669-45delinsCTTTG	XP_011515347.1:n.1669-49_1669-45delinsCTTTG
XR_928335.1:n.2054-49_2054-45delinsCTTTG
XM_017013460.1:c.1036-49_1036-45delinsCTTTG	XP_016868949.1:n.1036-49_1036-45delinsCTTTG
XM_017013462.2:c.1036-49_1036-45delinsCTTTG	XP_016868951.1:n.1036-49_1036-45delinsCTTTG
XM_024447163.1:c.1669-49_1669-45delinsCTTTG	XP_024302931.1:n.1669-49_1669-45delinsCTTTG
XM_024447164.1:c.1669-49_1669-45delinsCTTTG	XP_024302932.1:n.1669-49_1669-45delinsCTTTG
XM_024447165.1:c.1036-49_1036-45delinsCTTTG	XP_024302933.1:n.1036-49_1036-45delinsCTTTG
NM_002485.5:c.1915-49_1915-45delinsCTTTG MANE Select	NP_002476.2:n.1915-49_1915-45delinsCTTTG
NM_001024688.3:c.1669-49_1669-45delinsCTTTG	NP_001019859.1:n.1669-49_1669-45delinsCTTTG