Canonical Allele Identifier: CA2687854167

Gene: NBN

Linked Data

• gnomAD v4: 8-89947771-A-ACACAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947771_89947772insCACAAAAT , CM000670.2:g.89947771_89947772insCACAAAAT	GRCh38
NC_000008.10:g.90959999_90960000insCACAAAAT , CM000670.1:g.90959999_90960000insCACAAAAT	GRCh37
NC_000008.9:g.91029175_91029176insCACAAAAT	NCBI36
NG_008860.1:g.41900_41901insATTTTGTG , LRG_158:g.41900_41901insATTTTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3216+52_3216+53insATTTTGTG
ENST00000517337.2:c.1668+52_1668+53insATTTTGTG	ENSP00000429971.2:n.1668+52_1668+53insATT...
ENST00000523444.2:c.1668+52_1668+53insATTTTGTG	ENSP00000428252.2:n.1668+52_1668+53insATT...
ENST00000697292.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513229.1:n.1914+52_1914+53insATT...
ENST00000697293.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513230.1:n.1914+52_1914+53insATT...
ENST00000697294.1:c.*1525+52_*1525+53insATTTTGTG	ENSP00000513231.1:n.*1525+52_*1525+53insA...
ENST00000697295.1:c.*1223+52_*1223+53insATTTTGTG	ENSP00000513232.1:n.*1223+52_*1223+53insA...
ENST00000697296.1:c.*1582+52_*1582+53insATTTTGTG	ENSP00000513233.1:n.*1582+52_*1582+53insA...
ENST00000697297.1:n.3699+52_3699+53insATTTTGTG
ENST00000697298.1:c.1668+52_1668+53insATTTTGTG	ENSP00000513234.1:n.1668+52_1668+53insATT...
ENST00000697299.1:c.1668+52_1668+53insATTTTGTG	ENSP00000513235.1:n.1668+52_1668+53insATT...
ENST00000697300.1:c.*1518+52_*1518+53insATTTTGTG	ENSP00000513236.1:n.*1518+52_*1518+53insA...
ENST00000697301.1:c.*1435+52_*1435+53insATTTTGTG	ENSP00000513237.1:n.*1435+52_*1435+53insA...
ENST00000697302.1:c.*1435+52_*1435+53insATTTTGTG	ENSP00000513238.1:n.*1435+52_*1435+53insA...
ENST00000697303.1:c.*1518+52_*1518+53insATTTTGTG	ENSP00000513239.1:n.*1518+52_*1518+53insA...
ENST00000697304.1:c.1602+52_1602+53insATTTTGTG	ENSP00000513240.1:n.1602+52_1602+53insATT...
ENST00000697306.1:c.*989_*990insATTTTGTG	ENSP00000513241.1:n.*989_*990insATTTTGTG
ENST00000697307.1:c.1846-4406_1846-4405insATTTTGTG	ENSP00000513242.1:n.1846-4406_1846-4405in...
ENST00000697308.1:c.1846-1477_1846-1476insATTTTGTG	ENSP00000513243.1:n.1846-1477_1846-1476in...
ENST00000697309.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513244.1:n.1914+52_1914+53insATT...
ENST00000697310.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513245.1:n.1914+52_1914+53insATT...
ENST00000697311.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513246.1:n.1914+52_1914+53insATT...
ENST00000697312.1:c.*1312+52_*1312+53insATTTTGTG	ENSP00000513247.1:n.*1312+52_*1312+53insA...
ENST00000697313.1:n.2688-12160_2688-12159insATTTTGTG
ENST00000697314.1:n.3636+5472_3636+5473insATTTTGTG
ENST00000697315.1:c.1914+52_1914+53insATTTTGTG	ENSP00000513248.1:n.1914+52_1914+53insATT...
ENST00000697316.1:n.2035+52_2035+53insATTTTGTG
ENST00000697317.1:n.2005+71_2005+72insATTTTGTG
ENST00000265433.8:c.1914+52_1914+53insATTTTGTG MANE Select	ENSP00000265433.4:n.1914+52_1914+53insATT...
ENST00000265433.7:c.1914+52_1914+53insATTTTGTG	ENSP00000265433.3:n.1914+52_1914+53insATT...
ENST00000396252.6:c.*1787+52_*1787+53insATTTTGTG	ENSP00000379551.2:n.*1787+52_*1787+53insA...
ENST00000409330.5:c.1668+52_1668+53insATTTTGTG	ENSP00000386924.1:n.1668+52_1668+53insATT...
ENST00000613033.1:c.180+52_180+53insATTTTGTG	ENSP00000484487.1:n.180+52_180+53insATTTT...
NM_001024688.2:c.1668+52_1668+53insATTTTGTG	NP_001019859.1:n.1668+52_1668+53insATTTTG...
NM_002485.4:c.1914+52_1914+53insATTTTGTG , LRG_158t1:c.1914+52_1914+53insATTTTGTG	NP_002476.2:n.1914+52_1914+53insATTTTGTG
XM_011517044.1:c.1890+52_1890+53insATTTTGTG	XP_011515346.1:n.1890+52_1890+53insATTTTG...
XM_011517045.1:c.1668+52_1668+53insATTTTGTG	XP_011515347.1:n.1668+52_1668+53insATTTTG...
XR_928335.1:n.2053+52_2053+53insATTTTGTG
XM_017013460.1:c.1035+52_1035+53insATTTTGTG	XP_016868949.1:n.1035+52_1035+53insATTTTG...
XM_017013462.2:c.1035+52_1035+53insATTTTGTG	XP_016868951.1:n.1035+52_1035+53insATTTTG...
XM_024447163.1:c.1668+52_1668+53insATTTTGTG	XP_024302931.1:n.1668+52_1668+53insATTTTG...
XM_024447164.1:c.1668+52_1668+53insATTTTGTG	XP_024302932.1:n.1668+52_1668+53insATTTTG...
XM_024447165.1:c.1035+52_1035+53insATTTTGTG	XP_024302933.1:n.1035+52_1035+53insATTTTG...
NM_002485.5:c.1914+52_1914+53insATTTTGTG MANE Select	NP_002476.2:n.1914+52_1914+53insATTTTGTG
NM_001024688.3:c.1668+52_1668+53insATTTTGTG	NP_001019859.1:n.1668+52_1668+53insATTTTG...