Canonical Allele Identifier: CA2513801745
Gene: NOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27769483_27769484del , CM000679.2:g.27769483_27769484del GRCh38
NC_000017.10:g.26096509_26096510del , CM000679.1:g.26096509_26096510del GRCh37
NC_000017.9:g.23120636_23120637del NCBI36
NG_011470.1:g.36046_36047del

Transcript Alleles

HGVS Amino-acid change
ENST00000697337.1:c.*2595+51_*2595+52del ENSP00000513259.1:n.*2595+51_*2595+52del
ENST00000697338.1:c.1707+51_1707+52del ENSP00000513260.1:n.1707+51_1707+52del
ENST00000697339.1:c.893+51_893+52del ENSP00000513261.1:n.893+51_893+52del
ENST00000697340.1:c.*576+51_*576+52del ENSP00000513262.1:n.*576+51_*576+52del
ENST00000697341.1:n.1829+51_1829+52del
ENST00000313735.11:c.1859+51_1859+52del MANE Select ENSP00000327251.6:n.1859+51_1859+52del
ENST00000646938.1:c.1856+51_1856+52del ENSP00000494870.1:n.1856+51_1856+52del
ENST00000313735.10:c.1859+51_1859+52del ENSP00000327251.6:n.1859+51_1859+52del
ENST00000621962.1:c.1742+51_1742+52del ENSP00000482291.1:n.1742+51_1742+52del
NM_000625.4:c.1859+51_1859+52del MANE Select NP_000616.3:n.1859+51_1859+52del
XM_011524859.1:c.1859+51_1859+52del XP_011523161.1:n.1859+51_1859+52del
XM_011524860.1:c.1856+51_1856+52del XP_011523162.1:n.1856+51_1856+52del
XM_011524861.1:c.1859+51_1859+52del XP_011523163.1:n.1859+51_1859+52del
XM_011524862.1:c.1193+51_1193+52del XP_011523164.1:n.1193+51_1193+52del