Canonical Allele Identifier: CA583376165

Gene: NBN

Linked Data

• dbSNP Id: rs1563579752
• gnomAD v2: 8-90993150-CAT-C
• gnomAD v4: 8-89980922-CAT-C
• MyVariant Identifiers: chr8:g.90993151_90993152del (hg19) ; chr8:g.89980923_89980924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980924_89980925del , CM000670.2:g.89980924_89980925del	GRCh38
NC_000008.10:g.90993152_90993153del , CM000670.1:g.90993152_90993153del	GRCh37
NC_000008.9:g.91062328_91062329del	NCBI36
NG_008860.1:g.8748_8749del , LRG_158:g.8748_8749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1623-31_1623-30del
ENST00000517337.2:c.75-31_75-30del	ENSP00000429971.2:n.75-31_75-30del
ENST00000523444.2:c.75-31_75-30del	ENSP00000428252.2:n.75-31_75-30del
ENST00000697292.1:c.321-31_321-30del	ENSP00000513229.1:n.321-31_321-30del
ENST00000697293.1:c.321-31_321-30del	ENSP00000513230.1:n.321-31_321-30del
ENST00000697294.1:c.321-72_321-71del	ENSP00000513231.1:n.321-72_321-71del
ENST00000697295.1:c.37+3601_37+3602del	ENSP00000513232.1:n.37+3601_37+3602del
ENST00000697296.1:c.172-31_172-30del	ENSP00000513233.1:n.172-31_172-30del
ENST00000697297.1:n.2075_2076del
ENST00000697298.1:c.75-31_75-30del	ENSP00000513234.1:n.75-31_75-30del
ENST00000697299.1:c.75-31_75-30del	ENSP00000513235.1:n.75-31_75-30del
ENST00000697300.1:c.75-31_75-30del	ENSP00000513236.1:n.75-31_75-30del
ENST00000697301.1:c.75-72_75-71del	ENSP00000513237.1:n.75-72_75-71del
ENST00000697302.1:c.321-72_321-71del	ENSP00000513238.1:n.321-72_321-71del
ENST00000697303.1:c.321-31_321-30del	ENSP00000513239.1:n.321-31_321-30del
ENST00000697304.1:c.321-31_321-30del	ENSP00000513240.1:n.321-31_321-30del
ENST00000697306.1:c.321-31_321-30del	ENSP00000513241.1:n.321-31_321-30del
ENST00000697307.1:c.321-31_321-30del	ENSP00000513242.1:n.321-31_321-30del
ENST00000697308.1:c.321-31_321-30del	ENSP00000513243.1:n.321-31_321-30del
ENST00000697309.1:c.321-31_321-30del	ENSP00000513244.1:n.321-31_321-30del
ENST00000697310.1:c.321-31_321-30del	ENSP00000513245.1:n.321-31_321-30del
ENST00000697311.1:c.321-31_321-30del	ENSP00000513246.1:n.321-31_321-30del
ENST00000697312.1:c.321-31_321-30del	ENSP00000513247.1:n.321-31_321-30del
ENST00000697313.1:n.2081_2082del
ENST00000697314.1:n.2081_2082del
ENST00000697315.1:c.321-31_321-30del	ENSP00000513248.1:n.321-31_321-30del
ENST00000697316.1:n.442-31_442-30del
ENST00000697317.1:n.431-31_431-30del
ENST00000697318.1:n.433-31_433-30del
ENST00000265433.8:c.321-31_321-30del MANE Select	ENSP00000265433.4:n.321-31_321-30del
ENST00000265433.7:c.321-31_321-30del	ENSP00000265433.3:n.321-31_321-30del
ENST00000396252.6:c.*194-31_*194-30del	ENSP00000379551.2:n.*194-31_*194-30del
ENST00000409330.5:c.75-31_75-30del	ENSP00000386924.1:n.75-31_75-30del
ENST00000517337.1:c.75-31_75-30del	ENSP00000429971.1:n.75-31_75-30del
ENST00000517772.5:c.75-31_75-30del	ENSP00000428717.1:n.75-31_75-30del
ENST00000519426.5:c.320+451_320+452del	ENSP00000430983.1:n.320+451_320+452del
ENST00000523444.1:c.*194-72_*194-71del	ENSP00000428252.1:n.*194-72_*194-71del
NM_001024688.2:c.75-31_75-30del	NP_001019859.1:n.75-31_75-30del
NM_002485.4:c.321-31_321-30del , LRG_158t1:c.321-31_321-30del	NP_002476.2:n.321-31_321-30del
XM_011517044.1:c.297-31_297-30del	XP_011515346.1:n.297-31_297-30del
XM_011517045.1:c.75-31_75-30del	XP_011515347.1:n.75-31_75-30del
XM_011517046.1:c.321-31_321-30del	XP_011515348.1:n.321-31_321-30del
XR_928335.1:n.458-31_458-30del
XM_017013460.1:c.-649-31_-649-30del	XP_016868949.1:n.-649-31_-649-30del
XM_017013462.2:c.-455-31_-455-30del	XP_016868951.1:n.-455-31_-455-30del
XM_024447163.1:c.75-31_75-30del	XP_024302931.1:n.75-31_75-30del
XM_024447164.1:c.75-31_75-30del	XP_024302932.1:n.75-31_75-30del
XM_024447165.1:c.-649-31_-649-30del	XP_024302933.1:n.-649-31_-649-30del
NM_002485.5:c.321-31_321-30del MANE Select	NP_002476.2:n.321-31_321-30del
NM_001024688.3:c.75-31_75-30del	NP_001019859.1:n.75-31_75-30del