Canonical Allele Identifier: CA2687852937

Gene: NBN

Linked Data

• gnomAD v4: 8-89937114-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937114G>T , CM000670.2:g.89937114G>T	GRCh38
NC_000008.10:g.90949342G>T , CM000670.1:g.90949342G>T	GRCh37
NC_000008.9:g.91018518G>T	NCBI36
NG_008860.1:g.52558C>A , LRG_158:g.52558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3566C>A
ENST00000494804.2:n.3487-39C>A
ENST00000517337.2:c.1939-39C>A	ENSP00000429971.2:n.1939-39C>A
ENST00000523444.2:c.1939-39C>A	ENSP00000428252.2:n.1939-39C>A
ENST00000697292.1:c.2185-39C>A	ENSP00000513229.1:n.2185-39C>A
ENST00000697293.1:c.2236-39C>A	ENSP00000513230.1:n.2236-39C>A
ENST00000697294.1:c.*1796-39C>A	ENSP00000513231.1:n.*1796-39C>A
ENST00000697295.1:c.*1494-39C>A	ENSP00000513232.1:n.*1494-39C>A
ENST00000697296.1:c.*1853-39C>A	ENSP00000513233.1:n.*1853-39C>A
ENST00000697297.1:n.3970-39C>A
ENST00000697298.1:c.1939-39C>A	ENSP00000513234.1:n.1939-39C>A
ENST00000697299.1:c.1939-39C>A	ENSP00000513235.1:n.1939-39C>A
ENST00000697300.1:c.*1789-39C>A	ENSP00000513236.1:n.*1789-39C>A
ENST00000697301.1:c.*1706-39C>A	ENSP00000513237.1:n.*1706-39C>A
ENST00000697302.1:c.*1706-39C>A	ENSP00000513238.1:n.*1706-39C>A
ENST00000697303.1:c.*1789-39C>A	ENSP00000513239.1:n.*1789-39C>A
ENST00000697304.1:c.1873-39C>A	ENSP00000513240.1:n.1873-39C>A
ENST00000697305.1:n.2452-39C>A
ENST00000697306.1:c.*2736-39C>A	ENSP00000513241.1:n.*2736-39C>A
ENST00000697307.1:c.1960-39C>A	ENSP00000513242.1:n.1960-39C>A
ENST00000697308.1:c.2116-39C>A	ENSP00000513243.1:n.2116-39C>A
ENST00000697309.1:c.2185-1502C>A	ENSP00000513244.1:n.2185-1502C>A
ENST00000697310.1:c.2185-39C>A	ENSP00000513245.1:n.2185-39C>A
ENST00000697311.1:c.*450-39C>A	ENSP00000513246.1:n.*450-39C>A
ENST00000697312.1:c.*1638-39C>A	ENSP00000513247.1:n.*1638-39C>A
ENST00000697313.1:n.2688-1502C>A
ENST00000697314.1:n.3637-1502C>A
ENST00000697315.1:c.*89-39C>A	ENSP00000513248.1:n.*89-39C>A
ENST00000697316.1:n.2306-39C>A
ENST00000265433.8:c.2185-39C>A MANE Select	ENSP00000265433.4:n.2185-39C>A
ENST00000265433.7:c.2185-39C>A	ENSP00000265433.3:n.2185-39C>A
ENST00000396252.6:c.*2058-39C>A	ENSP00000379551.2:n.*2058-39C>A
ENST00000409330.5:c.1939-39C>A	ENSP00000386924.1:n.1939-39C>A
ENST00000474821.1:n.234C>A
ENST00000613033.1:c.295-39C>A	ENSP00000484487.1:n.295-39C>A
NM_001024688.2:c.1939-39C>A	NP_001019859.1:n.1939-39C>A
NM_002485.4:c.2185-39C>A , LRG_158t1:c.2185-39C>A	NP_002476.2:n.2185-39C>A
XM_011517044.1:c.2161-39C>A	XP_011515346.1:n.2161-39C>A
XM_011517045.1:c.1939-39C>A	XP_011515347.1:n.1939-39C>A
XM_017013460.1:c.1306-39C>A	XP_016868949.1:n.1306-39C>A
XM_017013462.2:c.1306-39C>A	XP_016868951.1:n.1306-39C>A
XM_024447163.1:c.1939-39C>A	XP_024302931.1:n.1939-39C>A
XM_024447164.1:c.1939-39C>A	XP_024302932.1:n.1939-39C>A
XM_024447165.1:c.1306-39C>A	XP_024302933.1:n.1306-39C>A
NM_002485.5:c.2185-39C>A MANE Select	NP_002476.2:n.2185-39C>A
NM_001024688.3:c.1939-39C>A	NP_001019859.1:n.1939-39C>A