Canonical Allele Identifier: CA1801422949

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953576_89953579delinsCCTT , CM000670.2:g.89953576_89953579delinsCCTT	GRCh38
NC_000008.10:g.90965804_90965807delinsCCTT , CM000670.1:g.90965804_90965807delinsCCTT	GRCh37
NC_000008.9:g.91034980_91034983delinsCCTT	NCBI36
NG_008860.1:g.36093_36096delinsAAGG , LRG_158:g.36093_36096delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2812_2815delinsAAGG
ENST00000517337.2:c.1264_1267delinsAAGG	ENSP00000429971.2:p.Lys422=
ENST00000523444.2:c.1264_1267delinsAAGG	ENSP00000428252.2:p.Lys422=
ENST00000697292.1:c.1510_1513delinsAAGG	ENSP00000513229.1:p.Lys504=
ENST00000697293.1:c.1510_1513delinsAAGG	ENSP00000513230.1:p.Lys504=
ENST00000697294.1:c.*1121_*1124delinsAAGG	ENSP00000513231.1:n.*1121_*1124delinsAAGG
ENST00000697295.1:c.*819_*822delinsAAGG	ENSP00000513232.1:n.*819_*822delinsAAGG
ENST00000697296.1:c.*1178_*1181delinsAAGG	ENSP00000513233.1:n.*1178_*1181delinsAAGG
ENST00000697297.1:n.3295_3298delinsAAGG
ENST00000697298.1:c.1264_1267delinsAAGG	ENSP00000513234.1:p.Lys422=
ENST00000697299.1:c.1264_1267delinsAAGG	ENSP00000513235.1:p.Lys422=
ENST00000697300.1:c.*1114_*1117delinsAAGG	ENSP00000513236.1:n.*1114_*1117delinsAAGG
ENST00000697301.1:c.*1031_*1034delinsAAGG	ENSP00000513237.1:n.*1031_*1034delinsAAGG
ENST00000697302.1:c.*1031_*1034delinsAAGG	ENSP00000513238.1:n.*1031_*1034delinsAAGG
ENST00000697303.1:c.*1114_*1117delinsAAGG	ENSP00000513239.1:n.*1114_*1117delinsAAGG
ENST00000697304.1:c.1198_1201delinsAAGG	ENSP00000513240.1:p.Lys400=
ENST00000697306.1:c.*510_*513delinsAAGG	ENSP00000513241.1:n.*510_*513delinsAAGG
ENST00000697307.1:c.1510_1513delinsAAGG	ENSP00000513242.1:p.Lys504=
ENST00000697308.1:c.1510_1513delinsAAGG	ENSP00000513243.1:p.Lys504=
ENST00000697309.1:c.1510_1513delinsAAGG	ENSP00000513244.1:p.Lys504=
ENST00000697310.1:c.1510_1513delinsAAGG	ENSP00000513245.1:p.Lys504=
ENST00000697311.1:c.1510_1513delinsAAGG	ENSP00000513246.1:p.Lys504=
ENST00000697312.1:c.*908_*911delinsAAGG	ENSP00000513247.1:n.*908_*911delinsAAGG
ENST00000697313.1:n.2687+16785_2687+16788delinsAAGG
ENST00000697314.1:n.3301_3304delinsAAGG
ENST00000697315.1:c.1510_1513delinsAAGG	ENSP00000513248.1:p.Lys504=
ENST00000697316.1:n.1631_1634delinsAAGG
ENST00000697317.1:n.1620_1623delinsAAGG
ENST00000697318.1:n.1622_1625delinsAAGG
ENST00000265433.8:c.1510_1513delinsAAGG MANE Select	ENSP00000265433.4:p.Lys504=
ENST00000265433.7:c.1510_1513delinsAAGG	ENSP00000265433.3:p.Lys504=
ENST00000396252.6:c.*1383_*1386delinsAAGG	ENSP00000379551.2:n.*1383_*1386delinsAAGG
ENST00000409330.5:c.1264_1267delinsAAGG	ENSP00000386924.1:p.Lys422=
NM_001024688.2:c.1264_1267delinsAAGG	NP_001019859.1:p.Lys422=
NM_002485.4:c.1510_1513delinsAAGG , LRG_158t1:c.1510_1513delinsAAGG	NP_002476.2:p.Lys504=
XM_011517044.1:c.1486_1489delinsAAGG	XP_011515346.1:p.Lys496=
XM_011517045.1:c.1264_1267delinsAAGG	XP_011515347.1:p.Lys422=
XR_928335.1:n.1649_1652delinsAAGG
XM_017013460.1:c.631_634delinsAAGG	XP_016868949.1:p.Lys211=
XM_017013462.2:c.631_634delinsAAGG	XP_016868951.1:p.Lys211=
XM_024447163.1:c.1264_1267delinsAAGG	XP_024302931.1:p.Lys422=
XM_024447164.1:c.1264_1267delinsAAGG	XP_024302932.1:p.Lys422=
XM_024447165.1:c.631_634delinsAAGG	XP_024302933.1:p.Lys211=
NM_002485.5:c.1510_1513delinsAAGG MANE Select	NP_002476.2:p.Lys504=
NM_001024688.3:c.1264_1267delinsAAGG	NP_001019859.1:p.Lys422=