Canonical Allele Identifier: CA2809097796
Gene: NOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27769531_27769532del , CM000679.2:g.27769531_27769532del GRCh38
NC_000017.10:g.26096557_26096558del , CM000679.1:g.26096557_26096558del GRCh37
NC_000017.9:g.23120684_23120685del NCBI36
NG_011470.1:g.35999_36000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697337.1:c.*2595+4_*2595+5del ENSP00000513259.1:n.*2595+4_*2595+5del
ENST00000697338.1:c.1707+4_1707+5del ENSP00000513260.1:n.1707+4_1707+5del
ENST00000697339.1:c.893+4_893+5del ENSP00000513261.1:n.893+4_893+5del
ENST00000697340.1:c.*576+4_*576+5del ENSP00000513262.1:n.*576+4_*576+5del
ENST00000697341.1:n.1829+4_1829+5del
ENST00000313735.11:c.1859+4_1859+5del MANE Select ENSP00000327251.6:n.1859+4_1859+5del
ENST00000646938.1:c.1856+4_1856+5del ENSP00000494870.1:n.1856+4_1856+5del
ENST00000313735.10:c.1859+4_1859+5del ENSP00000327251.6:n.1859+4_1859+5del
ENST00000621962.1:c.1742+4_1742+5del ENSP00000482291.1:n.1742+4_1742+5del
NM_000625.4:c.1859+4_1859+5del MANE Select NP_000616.3:n.1859+4_1859+5del
XM_011524859.1:c.1859+4_1859+5del XP_011523161.1:n.1859+4_1859+5del
XM_011524860.1:c.1856+4_1856+5del XP_011523162.1:n.1856+4_1856+5del
XM_011524861.1:c.1859+4_1859+5del XP_011523163.1:n.1859+4_1859+5del
XM_011524862.1:c.1193+4_1193+5del XP_011523164.1:n.1193+4_1193+5del