Canonical Allele Identifier: CA2687856929

Gene: NBN

Linked Data

• gnomAD v4: 8-89980666-TGTGTATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980670_89980676del , CM000670.2:g.89980670_89980676del	GRCh38
NC_000008.10:g.90992898_90992904del , CM000670.1:g.90992898_90992904del	GRCh37
NC_000008.9:g.91062074_91062080del	NCBI36
NG_008860.1:g.8999_9005del , LRG_158:g.8999_9005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1782+61_1782+67del
ENST00000517337.2:c.234+61_234+67del	ENSP00000429971.2:n.234+61_234+67del
ENST00000523444.2:c.234+61_234+67del	ENSP00000428252.2:n.234+61_234+67del
ENST00000697292.1:c.480+61_480+67del	ENSP00000513229.1:n.480+61_480+67del
ENST00000697293.1:c.480+61_480+67del	ENSP00000513230.1:n.480+61_480+67del
ENST00000697294.1:c.*1+61_*1+67del	ENSP00000513231.1:n.*1+61_*1+67del
ENST00000697295.1:c.37+3852_37+3858del	ENSP00000513232.1:n.37+3852_37+3858del
ENST00000697296.1:c.*148+61_*148+67del	ENSP00000513233.1:n.*148+61_*148+67del
ENST00000697297.1:n.2265+61_2265+67del
ENST00000697298.1:c.234+61_234+67del	ENSP00000513234.1:n.234+61_234+67del
ENST00000697299.1:c.234+61_234+67del	ENSP00000513235.1:n.234+61_234+67del
ENST00000697300.1:c.234+61_234+67del	ENSP00000513236.1:n.234+61_234+67del
ENST00000697301.1:c.*1+61_*1+67del	ENSP00000513237.1:n.*1+61_*1+67del
ENST00000697302.1:c.*1+61_*1+67del	ENSP00000513238.1:n.*1+61_*1+67del
ENST00000697303.1:c.480+61_480+67del	ENSP00000513239.1:n.480+61_480+67del
ENST00000697304.1:c.480+61_480+67del	ENSP00000513240.1:n.480+61_480+67del
ENST00000697306.1:c.480+61_480+67del	ENSP00000513241.1:n.480+61_480+67del
ENST00000697307.1:c.480+61_480+67del	ENSP00000513242.1:n.480+61_480+67del
ENST00000697308.1:c.480+61_480+67del	ENSP00000513243.1:n.480+61_480+67del
ENST00000697309.1:c.480+61_480+67del	ENSP00000513244.1:n.480+61_480+67del
ENST00000697310.1:c.480+61_480+67del	ENSP00000513245.1:n.480+61_480+67del
ENST00000697311.1:c.480+61_480+67del	ENSP00000513246.1:n.480+61_480+67del
ENST00000697312.1:c.480+61_480+67del	ENSP00000513247.1:n.480+61_480+67del
ENST00000697313.1:n.2271+61_2271+67del
ENST00000697314.1:n.2271+61_2271+67del
ENST00000697315.1:c.480+61_480+67del	ENSP00000513248.1:n.480+61_480+67del
ENST00000697316.1:n.601+61_601+67del
ENST00000697317.1:n.590+61_590+67del
ENST00000697318.1:n.592+61_592+67del
ENST00000265433.8:c.480+61_480+67del MANE Select	ENSP00000265433.4:n.480+61_480+67del
ENST00000265433.7:c.480+61_480+67del	ENSP00000265433.3:n.480+61_480+67del
ENST00000396252.6:c.*353+61_*353+67del	ENSP00000379551.2:n.*353+61_*353+67del
ENST00000409330.5:c.234+61_234+67del	ENSP00000386924.1:n.234+61_234+67del
ENST00000517337.1:c.234+61_234+67del	ENSP00000429971.1:n.234+61_234+67del
ENST00000517772.5:c.234+61_234+67del	ENSP00000428717.1:n.234+61_234+67del
ENST00000519426.5:c.320+702_320+708del	ENSP00000430983.1:n.320+702_320+708del
ENST00000523444.1:c.*312+61_*312+67del	ENSP00000428252.1:n.*312+61_*312+67del
NM_001024688.2:c.234+61_234+67del	NP_001019859.1:n.234+61_234+67del
NM_002485.4:c.480+61_480+67del , LRG_158t1:c.480+61_480+67del	NP_002476.2:n.480+61_480+67del
XM_011517044.1:c.456+61_456+67del	XP_011515346.1:n.456+61_456+67del
XM_011517045.1:c.234+61_234+67del	XP_011515347.1:n.234+61_234+67del
XM_011517046.1:c.480+61_480+67del	XP_011515348.1:n.480+61_480+67del
XR_928335.1:n.617+61_617+67del
XM_017013460.1:c.-490+61_-490+67del	XP_016868949.1:n.-490+61_-490+67del
XM_017013462.2:c.-296+61_-296+67del	XP_016868951.1:n.-296+61_-296+67del
XM_024447163.1:c.234+61_234+67del	XP_024302931.1:n.234+61_234+67del
XM_024447164.1:c.234+61_234+67del	XP_024302932.1:n.234+61_234+67del
XM_024447165.1:c.-490+61_-490+67del	XP_024302933.1:n.-490+61_-490+67del
NM_002485.5:c.480+61_480+67del MANE Select	NP_002476.2:n.480+61_480+67del
NM_001024688.3:c.234+61_234+67del	NP_001019859.1:n.234+61_234+67del