Canonical Allele Identifier: CA2687854791

Gene: NBN

Linked Data

• gnomAD v4: 8-89964364-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964365_89964367del , CM000670.2:g.89964365_89964367del	GRCh38
NC_000008.10:g.90976593_90976595del , CM000670.1:g.90976593_90976595del	GRCh37
NC_000008.9:g.91045769_91045771del	NCBI36
NG_008860.1:g.25305_25307del , LRG_158:g.25305_25307del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2296+43_2296+45del
ENST00000517337.2:c.748+43_748+45del	ENSP00000429971.2:n.748+43_748+45del
ENST00000523444.2:c.748+43_748+45del	ENSP00000428252.2:n.748+43_748+45del
ENST00000697292.1:c.994+43_994+45del	ENSP00000513229.1:n.994+43_994+45del
ENST00000697293.1:c.994+43_994+45del	ENSP00000513230.1:n.994+43_994+45del
ENST00000697294.1:c.*605+43_*605+45del	ENSP00000513231.1:n.*605+43_*605+45del
ENST00000697295.1:c.*303+43_*303+45del	ENSP00000513232.1:n.*303+43_*303+45del
ENST00000697296.1:c.*662+43_*662+45del	ENSP00000513233.1:n.*662+43_*662+45del
ENST00000697297.1:n.2779+43_2779+45del
ENST00000697298.1:c.748+43_748+45del	ENSP00000513234.1:n.748+43_748+45del
ENST00000697299.1:c.748+43_748+45del	ENSP00000513235.1:n.748+43_748+45del
ENST00000697300.1:c.*598+43_*598+45del	ENSP00000513236.1:n.*598+43_*598+45del
ENST00000697301.1:c.*515+43_*515+45del	ENSP00000513237.1:n.*515+43_*515+45del
ENST00000697302.1:c.*515+43_*515+45del	ENSP00000513238.1:n.*515+43_*515+45del
ENST00000697303.1:c.*598+43_*598+45del	ENSP00000513239.1:n.*598+43_*598+45del
ENST00000697304.1:c.682+43_682+45del	ENSP00000513240.1:n.682+43_682+45del
ENST00000697306.1:c.481-5513_481-5511del	ENSP00000513241.1:n.481-5513_481-5511del
ENST00000697307.1:c.994+43_994+45del	ENSP00000513242.1:n.994+43_994+45del
ENST00000697308.1:c.994+43_994+45del	ENSP00000513243.1:n.994+43_994+45del
ENST00000697309.1:c.994+43_994+45del	ENSP00000513244.1:n.994+43_994+45del
ENST00000697310.1:c.994+43_994+45del	ENSP00000513245.1:n.994+43_994+45del
ENST00000697311.1:c.994+43_994+45del	ENSP00000513246.1:n.994+43_994+45del
ENST00000697312.1:c.*392+43_*392+45del	ENSP00000513247.1:n.*392+43_*392+45del
ENST00000697313.1:n.2687+5997_2687+5999del
ENST00000697314.1:n.2785+43_2785+45del
ENST00000697315.1:c.994+43_994+45del	ENSP00000513248.1:n.994+43_994+45del
ENST00000697316.1:n.1115+43_1115+45del
ENST00000697317.1:n.1104+43_1104+45del
ENST00000697318.1:n.1106+43_1106+45del
ENST00000265433.8:c.994+43_994+45del MANE Select	ENSP00000265433.4:n.994+43_994+45del
ENST00000265433.7:c.994+43_994+45del	ENSP00000265433.3:n.994+43_994+45del
ENST00000396252.6:c.*867+43_*867+45del	ENSP00000379551.2:n.*867+43_*867+45del
ENST00000409330.5:c.748+43_748+45del	ENSP00000386924.1:n.748+43_748+45del
NM_001024688.2:c.748+43_748+45del	NP_001019859.1:n.748+43_748+45del
NM_002485.4:c.994+43_994+45del , LRG_158t1:c.994+43_994+45del	NP_002476.2:n.994+43_994+45del
XM_011517044.1:c.970+43_970+45del	XP_011515346.1:n.970+43_970+45del
XM_011517045.1:c.748+43_748+45del	XP_011515347.1:n.748+43_748+45del
XM_011517046.1:c.994+43_994+45del	XP_011515348.1:n.994+43_994+45del
XR_928335.1:n.1131+43_1131+45del
XM_017013460.1:c.115+43_115+45del	XP_016868949.1:n.115+43_115+45del
XM_017013462.2:c.115+43_115+45del	XP_016868951.1:n.115+43_115+45del
XM_024447163.1:c.748+43_748+45del	XP_024302931.1:n.748+43_748+45del
XM_024447164.1:c.748+43_748+45del	XP_024302932.1:n.748+43_748+45del
XM_024447165.1:c.115+43_115+45del	XP_024302933.1:n.115+43_115+45del
NM_002485.5:c.994+43_994+45del MANE Select	NP_002476.2:n.994+43_994+45del
NM_001024688.3:c.748+43_748+45del	NP_001019859.1:n.748+43_748+45del