Canonical Allele Identifier: CA2687855118

Gene: NBN

Linked Data

• gnomAD v4: 8-89970359-TATACCTTTGGAGCATATCCATTATTGACTGAATCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970362_89970396del , CM000670.2:g.89970362_89970396del	GRCh38
NC_000008.10:g.90982590_90982624del , CM000670.1:g.90982590_90982624del	GRCh37
NC_000008.9:g.91051766_91051800del	NCBI36
NG_008860.1:g.19278_19312del , LRG_158:g.19278_19312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2168_2198+4del
ENST00000517337.2:c.620_650+4del
ENST00000523444.2:c.620_650+4del
ENST00000697292.1:c.866_896+4del
ENST00000697293.1:c.866_896+4del
ENST00000697294.1:c.*477_*507+4del
ENST00000697295.1:c.*175_*205+4del
ENST00000697296.1:c.*534_*564+4del
ENST00000697297.1:n.2651_2681+4del
ENST00000697298.1:c.620_650+4del
ENST00000697299.1:c.620_650+4del
ENST00000697300.1:c.*470_*500+4del
ENST00000697301.1:c.*387_*417+4del
ENST00000697302.1:c.*387_*417+4del
ENST00000697303.1:c.*470_*500+4del
ENST00000697304.1:c.585-5887_585-5853del	ENSP00000513240.1:n.585-5887_585-5853del
ENST00000697306.1:c.480+10340_480+10374del	ENSP00000513241.1:n.480+10340_480+10374del
ENST00000697307.1:c.866_896+4del
ENST00000697308.1:c.866_896+4del
ENST00000697309.1:c.866_896+4del
ENST00000697310.1:c.866_896+4del
ENST00000697311.1:c.866_896+4del
ENST00000697312.1:c.*264_*294+4del
ENST00000697313.1:n.2657_2687+4del
ENST00000697314.1:n.2657_2687+4del
ENST00000697315.1:c.866_896+4del
ENST00000697316.1:n.987_1017+4del
ENST00000697317.1:n.976_1006+4del
ENST00000697318.1:n.978_1008+4del
ENST00000265433.8:c.866_896+4del
ENST00000265433.7:c.866_896+4del
ENST00000396252.6:c.*739_*769+4del
ENST00000409330.5:c.620_650+4del
NM_001024688.2:c.620_650+4del
NM_002485.4:c.866_896+4del , LRG_158t1:c.866_896+4del
XM_011517044.1:c.842_872+4del
XM_011517045.1:c.620_650+4del
XM_011517046.1:c.866_896+4del
XR_928335.1:n.1003_1033+4del
XM_017013460.1:c.-14_17+4del
XM_017013462.2:c.-14_17+4del
XM_024447163.1:c.620_650+4del
XM_024447164.1:c.620_650+4del
XM_024447165.1:c.-14_17+4del
NM_002485.5:c.866_896+4del
NM_001024688.3:c.620_650+4del