Canonical Allele Identifier: CA2687855035

Gene: NBN

Linked Data

• gnomAD v4: 8-89970281-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970284_89970286del , CM000670.2:g.89970284_89970286del	GRCh38
NC_000008.10:g.90982512_90982514del , CM000670.1:g.90982512_90982514del	GRCh37
NC_000008.9:g.91051688_91051690del	NCBI36
NG_008860.1:g.19388_19390del , LRG_158:g.19388_19390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2198+80_2198+82del
ENST00000517337.2:c.650+80_650+82del	ENSP00000429971.2:n.650+80_650+82del
ENST00000523444.2:c.650+80_650+82del	ENSP00000428252.2:n.650+80_650+82del
ENST00000697292.1:c.896+80_896+82del	ENSP00000513229.1:n.896+80_896+82del
ENST00000697293.1:c.896+80_896+82del	ENSP00000513230.1:n.896+80_896+82del
ENST00000697294.1:c.*507+80_*507+82del	ENSP00000513231.1:n.*507+80_*507+82del
ENST00000697295.1:c.*205+80_*205+82del	ENSP00000513232.1:n.*205+80_*205+82del
ENST00000697296.1:c.*564+80_*564+82del	ENSP00000513233.1:n.*564+80_*564+82del
ENST00000697297.1:n.2681+80_2681+82del
ENST00000697298.1:c.650+80_650+82del	ENSP00000513234.1:n.650+80_650+82del
ENST00000697299.1:c.650+80_650+82del	ENSP00000513235.1:n.650+80_650+82del
ENST00000697300.1:c.*500+80_*500+82del	ENSP00000513236.1:n.*500+80_*500+82del
ENST00000697301.1:c.*417+80_*417+82del	ENSP00000513237.1:n.*417+80_*417+82del
ENST00000697302.1:c.*417+80_*417+82del	ENSP00000513238.1:n.*417+80_*417+82del
ENST00000697303.1:c.*500+80_*500+82del	ENSP00000513239.1:n.*500+80_*500+82del
ENST00000697304.1:c.585-5777_585-5775del	ENSP00000513240.1:n.585-5777_585-5775del
ENST00000697306.1:c.480+10450_480+10452del	ENSP00000513241.1:n.480+10450_480+10452del
ENST00000697307.1:c.896+80_896+82del	ENSP00000513242.1:n.896+80_896+82del
ENST00000697308.1:c.896+80_896+82del	ENSP00000513243.1:n.896+80_896+82del
ENST00000697309.1:c.896+80_896+82del	ENSP00000513244.1:n.896+80_896+82del
ENST00000697310.1:c.896+80_896+82del	ENSP00000513245.1:n.896+80_896+82del
ENST00000697311.1:c.896+80_896+82del	ENSP00000513246.1:n.896+80_896+82del
ENST00000697312.1:c.*294+80_*294+82del	ENSP00000513247.1:n.*294+80_*294+82del
ENST00000697313.1:n.2687+80_2687+82del
ENST00000697314.1:n.2687+80_2687+82del
ENST00000697315.1:c.896+80_896+82del	ENSP00000513248.1:n.896+80_896+82del
ENST00000697316.1:n.1017+80_1017+82del
ENST00000697317.1:n.1006+80_1006+82del
ENST00000697318.1:n.1008+80_1008+82del
ENST00000265433.8:c.896+80_896+82del MANE Select	ENSP00000265433.4:n.896+80_896+82del
ENST00000265433.7:c.896+80_896+82del	ENSP00000265433.3:n.896+80_896+82del
ENST00000396252.6:c.*769+80_*769+82del	ENSP00000379551.2:n.*769+80_*769+82del
ENST00000409330.5:c.650+80_650+82del	ENSP00000386924.1:n.650+80_650+82del
NM_001024688.2:c.650+80_650+82del	NP_001019859.1:n.650+80_650+82del
NM_002485.4:c.896+80_896+82del , LRG_158t1:c.896+80_896+82del	NP_002476.2:n.896+80_896+82del
XM_011517044.1:c.872+80_872+82del	XP_011515346.1:n.872+80_872+82del
XM_011517045.1:c.650+80_650+82del	XP_011515347.1:n.650+80_650+82del
XM_011517046.1:c.896+80_896+82del	XP_011515348.1:n.896+80_896+82del
XR_928335.1:n.1033+80_1033+82del
XM_017013460.1:c.17+80_17+82del	XP_016868949.1:n.17+80_17+82del
XM_017013462.2:c.17+80_17+82del	XP_016868951.1:n.17+80_17+82del
XM_024447163.1:c.650+80_650+82del	XP_024302931.1:n.650+80_650+82del
XM_024447164.1:c.650+80_650+82del	XP_024302932.1:n.650+80_650+82del
XM_024447165.1:c.17+80_17+82del	XP_024302933.1:n.17+80_17+82del
NM_002485.5:c.896+80_896+82del MANE Select	NP_002476.2:n.896+80_896+82del
NM_001024688.3:c.650+80_650+82del	NP_001019859.1:n.650+80_650+82del