Canonical Allele Identifier: CA583577306

Gene: NBN

Linked Data

• dbSNP Id: rs1563513862
• gnomAD v2: 8-90958568-CAAAG-C
• gnomAD v4: 8-89946340-CAAAG-C
• MyVariant Identifiers: chr8:g.90958569_90958572del (hg19) ; chr8:g.89946341_89946344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946344_89946347del , CM000670.2:g.89946344_89946347del	GRCh38
NC_000008.10:g.90958572_90958575del , CM000670.1:g.90958572_90958575del	GRCh37
NC_000008.9:g.91027748_91027751del	NCBI36
NG_008860.1:g.43328_43331del , LRG_158:g.43328_43331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-49_3217-46del
ENST00000517337.2:c.1669-49_1669-46del	ENSP00000429971.2:n.1669-49_1669-46del
ENST00000523444.2:c.1669-49_1669-46del	ENSP00000428252.2:n.1669-49_1669-46del
ENST00000697292.1:c.1915-49_1915-46del	ENSP00000513229.1:n.1915-49_1915-46del
ENST00000697293.1:c.1915-49_1915-46del	ENSP00000513230.1:n.1915-49_1915-46del
ENST00000697294.1:c.*1526-49_*1526-46del	ENSP00000513231.1:n.*1526-49_*1526-46del
ENST00000697295.1:c.*1224-49_*1224-46del	ENSP00000513232.1:n.*1224-49_*1224-46del
ENST00000697296.1:c.*1583-49_*1583-46del	ENSP00000513233.1:n.*1583-49_*1583-46del
ENST00000697297.1:n.3700-49_3700-46del
ENST00000697298.1:c.1669-49_1669-46del	ENSP00000513234.1:n.1669-49_1669-46del
ENST00000697299.1:c.1669-49_1669-46del	ENSP00000513235.1:n.1669-49_1669-46del
ENST00000697300.1:c.*1519-49_*1519-46del	ENSP00000513236.1:n.*1519-49_*1519-46del
ENST00000697301.1:c.*1436-49_*1436-46del	ENSP00000513237.1:n.*1436-49_*1436-46del
ENST00000697302.1:c.*1436-49_*1436-46del	ENSP00000513238.1:n.*1436-49_*1436-46del
ENST00000697303.1:c.*1519-49_*1519-46del	ENSP00000513239.1:n.*1519-49_*1519-46del
ENST00000697304.1:c.1603-49_1603-46del	ENSP00000513240.1:n.1603-49_1603-46del
ENST00000697306.1:c.*2417_*2420del	ENSP00000513241.1:n.*2417_*2420del
ENST00000697307.1:c.1846-2978_1846-2975del	ENSP00000513242.1:n.1846-2978_1846-2975del
ENST00000697308.1:c.1846-49_1846-46del	ENSP00000513243.1:n.1846-49_1846-46del
ENST00000697309.1:c.1915-49_1915-46del	ENSP00000513244.1:n.1915-49_1915-46del
ENST00000697310.1:c.1915-49_1915-46del	ENSP00000513245.1:n.1915-49_1915-46del
ENST00000697311.1:c.1915-49_1915-46del	ENSP00000513246.1:n.1915-49_1915-46del
ENST00000697312.1:c.*1313-49_*1313-46del	ENSP00000513247.1:n.*1313-49_*1313-46del
ENST00000697313.1:n.2688-10732_2688-10729del
ENST00000697314.1:n.3636+6900_3636+6903del
ENST00000697315.1:c.1915-49_1915-46del	ENSP00000513248.1:n.1915-49_1915-46del
ENST00000697316.1:n.2036-49_2036-46del
ENST00000697317.1:n.2006-49_2006-46del
ENST00000265433.8:c.1915-49_1915-46del MANE Select	ENSP00000265433.4:n.1915-49_1915-46del
ENST00000265433.7:c.1915-49_1915-46del	ENSP00000265433.3:n.1915-49_1915-46del
ENST00000396252.6:c.*1788-49_*1788-46del	ENSP00000379551.2:n.*1788-49_*1788-46del
ENST00000409330.5:c.1669-49_1669-46del	ENSP00000386924.1:n.1669-49_1669-46del
ENST00000520325.1:n.282_285del
ENST00000613033.1:c.180+1480_180+1483del	ENSP00000484487.1:n.180+1480_180+1483del
NM_001024688.2:c.1669-49_1669-46del	NP_001019859.1:n.1669-49_1669-46del
NM_002485.4:c.1915-49_1915-46del , LRG_158t1:c.1915-49_1915-46del	NP_002476.2:n.1915-49_1915-46del
XM_011517044.1:c.1891-49_1891-46del	XP_011515346.1:n.1891-49_1891-46del
XM_011517045.1:c.1669-49_1669-46del	XP_011515347.1:n.1669-49_1669-46del
XR_928335.1:n.2054-49_2054-46del
XM_017013460.1:c.1036-49_1036-46del	XP_016868949.1:n.1036-49_1036-46del
XM_017013462.2:c.1036-49_1036-46del	XP_016868951.1:n.1036-49_1036-46del
XM_024447163.1:c.1669-49_1669-46del	XP_024302931.1:n.1669-49_1669-46del
XM_024447164.1:c.1669-49_1669-46del	XP_024302932.1:n.1669-49_1669-46del
XM_024447165.1:c.1036-49_1036-46del	XP_024302933.1:n.1036-49_1036-46del
NM_002485.5:c.1915-49_1915-46del MANE Select	NP_002476.2:n.1915-49_1915-46del
NM_001024688.3:c.1669-49_1669-46del	NP_001019859.1:n.1669-49_1669-46del