Canonical Allele Identifier: CA856704695

Gene: NBN

Linked Data

• dbSNP Id: rs1321322768
• gnomAD v4: 8-89943420-AT-A
• MyVariant Identifiers: chr8:g.90955649del (hg19) ; chr8:g.89943421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943427del , CM000670.2:g.89943427del	GRCh38
NC_000008.10:g.90955655del , CM000670.1:g.90955655del	GRCh37
NC_000008.9:g.91024831del	NCBI36
NG_008860.1:g.46251del , LRG_158:g.46251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3373-55del
ENST00000517337.2:c.1825-55del	ENSP00000429971.2:n.1825-55del
ENST00000523444.2:c.1825-55del	ENSP00000428252.2:n.1825-55del
ENST00000697292.1:c.2071-55del	ENSP00000513229.1:n.2071-55del
ENST00000697293.1:c.2071-55del	ENSP00000513230.1:n.2071-55del
ENST00000697294.1:c.*1682-55del	ENSP00000513231.1:n.*1682-55del
ENST00000697295.1:c.*1380-55del	ENSP00000513232.1:n.*1380-55del
ENST00000697296.1:c.*1739-55del	ENSP00000513233.1:n.*1739-55del
ENST00000697297.1:n.3856-55del
ENST00000697298.1:c.1825-55del	ENSP00000513234.1:n.1825-55del
ENST00000697299.1:c.1825-55del	ENSP00000513235.1:n.1825-55del
ENST00000697300.1:c.*1675-55del	ENSP00000513236.1:n.*1675-55del
ENST00000697301.1:c.*1592-55del	ENSP00000513237.1:n.*1592-55del
ENST00000697302.1:c.*1592-55del	ENSP00000513238.1:n.*1592-55del
ENST00000697303.1:c.*1675-55del	ENSP00000513239.1:n.*1675-55del
ENST00000697304.1:c.1759-55del	ENSP00000513240.1:n.1759-55del
ENST00000697305.1:n.2283del
ENST00000697306.1:c.*2622-55del	ENSP00000513241.1:n.*2622-55del
ENST00000697307.1:c.1846-55del	ENSP00000513242.1:n.1846-55del
ENST00000697308.1:c.2002-55del	ENSP00000513243.1:n.2002-55del
ENST00000697309.1:c.2071-55del	ENSP00000513244.1:n.2071-55del
ENST00000697310.1:c.2071-55del	ENSP00000513245.1:n.2071-55del
ENST00000697311.1:c.2071-55del	ENSP00000513246.1:n.2071-55del
ENST00000697312.1:c.*1469-55del	ENSP00000513247.1:n.*1469-55del
ENST00000697313.1:n.2688-7809del
ENST00000697314.1:n.3637-7809del
ENST00000697315.1:c.2071-55del	ENSP00000513248.1:n.2071-55del
ENST00000697316.1:n.2192-55del
ENST00000265433.8:c.2071-55del MANE Select	ENSP00000265433.4:n.2071-55del
ENST00000265433.7:c.2071-55del	ENSP00000265433.3:n.2071-55del
ENST00000396252.6:c.*1944-55del	ENSP00000379551.2:n.*1944-55del
ENST00000409330.5:c.1825-55del	ENSP00000386924.1:n.1825-55del
ENST00000520325.1:n.487-55del
ENST00000613033.1:c.181-55del	ENSP00000484487.1:n.181-55del
NM_001024688.2:c.1825-55del	NP_001019859.1:n.1825-55del
NM_002485.4:c.2071-55del , LRG_158t1:c.2071-55del	NP_002476.2:n.2071-55del
XM_011517044.1:c.2047-55del	XP_011515346.1:n.2047-55del
XM_011517045.1:c.1825-55del	XP_011515347.1:n.1825-55del
XM_017013460.1:c.1192-55del	XP_016868949.1:n.1192-55del
XM_017013462.2:c.1192-55del	XP_016868951.1:n.1192-55del
XM_024447163.1:c.1825-55del	XP_024302931.1:n.1825-55del
XM_024447164.1:c.1825-55del	XP_024302932.1:n.1825-55del
XM_024447165.1:c.1192-55del	XP_024302933.1:n.1192-55del
NM_002485.5:c.2071-55del MANE Select	NP_002476.2:n.2071-55del
NM_001024688.3:c.1825-55del	NP_001019859.1:n.1825-55del