Canonical Allele Identifier: CA4802650

Gene: NBN

Linked Data

• dbSNP Id: rs768833267
• ExAC: 8:90958565 TAACAA / T
• gnomAD v2: 8-90958565-TAACAA-T
• gnomAD v4: 8-89946337-TAACAA-T
• MyVariant Identifiers: chr8:g.90958566_90958570del (hg19) ; chr8:g.89946338_89946342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946339_89946343del , CM000670.2:g.89946339_89946343del	GRCh38
NC_000008.10:g.90958567_90958571del , CM000670.1:g.90958567_90958571del	GRCh37
NC_000008.9:g.91027743_91027747del	NCBI36
NG_008860.1:g.43330_43334del , LRG_158:g.43330_43334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-47_3217-43del
ENST00000517337.2:c.1669-47_1669-43del	ENSP00000429971.2:n.1669-47_1669-43del
ENST00000523444.2:c.1669-47_1669-43del	ENSP00000428252.2:n.1669-47_1669-43del
ENST00000697292.1:c.1915-47_1915-43del	ENSP00000513229.1:n.1915-47_1915-43del
ENST00000697293.1:c.1915-47_1915-43del	ENSP00000513230.1:n.1915-47_1915-43del
ENST00000697294.1:c.*1526-47_*1526-43del	ENSP00000513231.1:n.*1526-47_*1526-43del
ENST00000697295.1:c.*1224-47_*1224-43del	ENSP00000513232.1:n.*1224-47_*1224-43del
ENST00000697296.1:c.*1583-47_*1583-43del	ENSP00000513233.1:n.*1583-47_*1583-43del
ENST00000697297.1:n.3700-47_3700-43del
ENST00000697298.1:c.1669-47_1669-43del	ENSP00000513234.1:n.1669-47_1669-43del
ENST00000697299.1:c.1669-47_1669-43del	ENSP00000513235.1:n.1669-47_1669-43del
ENST00000697300.1:c.*1519-47_*1519-43del	ENSP00000513236.1:n.*1519-47_*1519-43del
ENST00000697301.1:c.*1436-47_*1436-43del	ENSP00000513237.1:n.*1436-47_*1436-43del
ENST00000697302.1:c.*1436-47_*1436-43del	ENSP00000513238.1:n.*1436-47_*1436-43del
ENST00000697303.1:c.*1519-47_*1519-43del	ENSP00000513239.1:n.*1519-47_*1519-43del
ENST00000697304.1:c.1603-47_1603-43del	ENSP00000513240.1:n.1603-47_1603-43del
ENST00000697306.1:c.*2419_*2423del	ENSP00000513241.1:n.*2419_*2423del
ENST00000697307.1:c.1846-2976_1846-2972del	ENSP00000513242.1:n.1846-2976_1846-2972del
ENST00000697308.1:c.1846-47_1846-43del	ENSP00000513243.1:n.1846-47_1846-43del
ENST00000697309.1:c.1915-47_1915-43del	ENSP00000513244.1:n.1915-47_1915-43del
ENST00000697310.1:c.1915-47_1915-43del	ENSP00000513245.1:n.1915-47_1915-43del
ENST00000697311.1:c.1915-47_1915-43del	ENSP00000513246.1:n.1915-47_1915-43del
ENST00000697312.1:c.*1313-47_*1313-43del	ENSP00000513247.1:n.*1313-47_*1313-43del
ENST00000697313.1:n.2688-10730_2688-10726del
ENST00000697314.1:n.3636+6902_3636+6906del
ENST00000697315.1:c.1915-47_1915-43del	ENSP00000513248.1:n.1915-47_1915-43del
ENST00000697316.1:n.2036-47_2036-43del
ENST00000697317.1:n.2006-47_2006-43del
ENST00000265433.8:c.1915-47_1915-43del MANE Select	ENSP00000265433.4:n.1915-47_1915-43del
ENST00000265433.7:c.1915-47_1915-43del	ENSP00000265433.3:n.1915-47_1915-43del
ENST00000396252.6:c.*1788-47_*1788-43del	ENSP00000379551.2:n.*1788-47_*1788-43del
ENST00000409330.5:c.1669-47_1669-43del	ENSP00000386924.1:n.1669-47_1669-43del
ENST00000520325.1:n.284_288del
ENST00000613033.1:c.180+1482_180+1486del	ENSP00000484487.1:n.180+1482_180+1486del
NM_001024688.2:c.1669-47_1669-43del	NP_001019859.1:n.1669-47_1669-43del
NM_002485.4:c.1915-47_1915-43del , LRG_158t1:c.1915-47_1915-43del	NP_002476.2:n.1915-47_1915-43del
XM_011517044.1:c.1891-47_1891-43del	XP_011515346.1:n.1891-47_1891-43del
XM_011517045.1:c.1669-47_1669-43del	XP_011515347.1:n.1669-47_1669-43del
XR_928335.1:n.2054-47_2054-43del
XM_017013460.1:c.1036-47_1036-43del	XP_016868949.1:n.1036-47_1036-43del
XM_017013462.2:c.1036-47_1036-43del	XP_016868951.1:n.1036-47_1036-43del
XM_024447163.1:c.1669-47_1669-43del	XP_024302931.1:n.1669-47_1669-43del
XM_024447164.1:c.1669-47_1669-43del	XP_024302932.1:n.1669-47_1669-43del
XM_024447165.1:c.1036-47_1036-43del	XP_024302933.1:n.1036-47_1036-43del
NM_002485.5:c.1915-47_1915-43del MANE Select	NP_002476.2:n.1915-47_1915-43del
NM_001024688.3:c.1669-47_1669-43del	NP_001019859.1:n.1669-47_1669-43del