Canonical Allele Identifier: CA1801496757

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964430_89964431delinsGG , CM000670.2:g.89964430_89964431delinsGG	GRCh38
NC_000008.10:g.90976658_90976659delinsGG , CM000670.1:g.90976658_90976659delinsGG	GRCh37
NC_000008.9:g.91045834_91045835delinsGG	NCBI36
NG_008860.1:g.25241_25242delinsCC , LRG_158:g.25241_25242delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2275_2276delinsCC
ENST00000517337.2:c.727_728delinsCC	ENSP00000429971.2:p.Pro243=
ENST00000523444.2:c.727_728delinsCC	ENSP00000428252.2:p.Pro243=
ENST00000697292.1:c.973_974delinsCC	ENSP00000513229.1:p.Pro325=
ENST00000697293.1:c.973_974delinsCC	ENSP00000513230.1:p.Pro325=
ENST00000697294.1:c.*584_*585delinsCC	ENSP00000513231.1:n.*584_*585delinsCC
ENST00000697295.1:c.*282_*283delinsCC	ENSP00000513232.1:n.*282_*283delinsCC
ENST00000697296.1:c.*641_*642delinsCC	ENSP00000513233.1:n.*641_*642delinsCC
ENST00000697297.1:n.2758_2759delinsCC
ENST00000697298.1:c.727_728delinsCC	ENSP00000513234.1:p.Pro243=
ENST00000697299.1:c.727_728delinsCC	ENSP00000513235.1:p.Pro243=
ENST00000697300.1:c.*577_*578delinsCC	ENSP00000513236.1:n.*577_*578delinsCC
ENST00000697301.1:c.*494_*495delinsCC	ENSP00000513237.1:n.*494_*495delinsCC
ENST00000697302.1:c.*494_*495delinsCC	ENSP00000513238.1:n.*494_*495delinsCC
ENST00000697303.1:c.*577_*578delinsCC	ENSP00000513239.1:n.*577_*578delinsCC
ENST00000697304.1:c.661_662delinsCC	ENSP00000513240.1:p.Pro221=
ENST00000697306.1:c.481-5577_481-5576delinsCC	ENSP00000513241.1:n.481-5577_481-5576delinsCC
ENST00000697307.1:c.973_974delinsCC	ENSP00000513242.1:p.Pro325=
ENST00000697308.1:c.973_974delinsCC	ENSP00000513243.1:p.Pro325=
ENST00000697309.1:c.973_974delinsCC	ENSP00000513244.1:p.Pro325=
ENST00000697310.1:c.973_974delinsCC	ENSP00000513245.1:p.Pro325=
ENST00000697311.1:c.973_974delinsCC	ENSP00000513246.1:p.Pro325=
ENST00000697312.1:c.*371_*372delinsCC	ENSP00000513247.1:n.*371_*372delinsCC
ENST00000697313.1:n.2687+5933_2687+5934delinsCC
ENST00000697314.1:n.2764_2765delinsCC
ENST00000697315.1:c.973_974delinsCC	ENSP00000513248.1:p.Pro325=
ENST00000697316.1:n.1094_1095delinsCC
ENST00000697317.1:n.1083_1084delinsCC
ENST00000697318.1:n.1085_1086delinsCC
ENST00000265433.8:c.973_974delinsCC MANE Select	ENSP00000265433.4:p.Pro325=
ENST00000265433.7:c.973_974delinsCC	ENSP00000265433.3:p.Pro325=
ENST00000396252.6:c.*846_*847delinsCC	ENSP00000379551.2:n.*846_*847delinsCC
ENST00000409330.5:c.727_728delinsCC	ENSP00000386924.1:p.Pro243=
NM_001024688.2:c.727_728delinsCC	NP_001019859.1:p.Pro243=
NM_002485.4:c.973_974delinsCC , LRG_158t1:c.973_974delinsCC	NP_002476.2:p.Pro325=
XM_011517044.1:c.949_950delinsCC	XP_011515346.1:p.Pro317=
XM_011517045.1:c.727_728delinsCC	XP_011515347.1:p.Pro243=
XM_011517046.1:c.973_974delinsCC	XP_011515348.1:p.Pro325=
XR_928335.1:n.1110_1111delinsCC
XM_017013460.1:c.94_95delinsCC	XP_016868949.1:p.Pro32=
XM_017013462.2:c.94_95delinsCC	XP_016868951.1:p.Pro32=
XM_024447163.1:c.727_728delinsCC	XP_024302931.1:p.Pro243=
XM_024447164.1:c.727_728delinsCC	XP_024302932.1:p.Pro243=
XM_024447165.1:c.94_95delinsCC	XP_024302933.1:p.Pro32=
NM_002485.5:c.973_974delinsCC MANE Select	NP_002476.2:p.Pro325=
NM_001024688.3:c.727_728delinsCC	NP_001019859.1:p.Pro243=