Canonical Allele Identifier: CA2636789636

Gene: NOS2

Linked Data

• gnomAD v4: 17-27782135-T-TAAAAACAAACAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782135_27782136insAAAAACAAACAAA , CM000679.2:g.27782135_27782136insAAAAACAAACAAA	GRCh38
NC_000017.10:g.26109161_26109162insAAAAACAAACAAA , CM000679.1:g.26109161_26109162insAAAAACAAACAAA	GRCh37
NC_000017.9:g.23133288_23133289insAAAAACAAACAAA	NCBI36
NG_011470.1:g.23394_23395insTTTGTTTGTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*77-30_*77-29insTTTGTTTGTTTTT	ENSP00000513259.1:n.*77-30_*77-29insTTTGTTTGTTTTT
ENST00000697338.1:c.479-30_479-29insTTTGTTTGTTTTT	ENSP00000513260.1:n.479-30_479-29insTTTGTTTGTTTTT
ENST00000697339.1:c.315+6673_315+6674insTTTGTTTGTTTTT	ENSP00000513261.1:n.315+6673_315+6674insTTTGTTTGTTTTT
ENST00000697340.1:c.628-30_628-29insTTTGTTTGTTTTT	ENSP00000513262.1:n.628-30_628-29insTTTGTTTGTTTTT
ENST00000697341.1:n.601-30_601-29insTTTGTTTGTTTTT
ENST00000313735.11:c.631-30_631-29insTTTGTTTGTTTTT MANE Select	ENSP00000327251.6:n.631-30_631-29insTTTGTTTGTTTTT
ENST00000646938.1:c.628-30_628-29insTTTGTTTGTTTTT	ENSP00000494870.1:n.628-30_628-29insTTTGTTTGTTTTT
ENST00000313735.10:c.631-30_631-29insTTTGTTTGTTTTT	ENSP00000327251.6:n.631-30_631-29insTTTGTTTGTTTTT
ENST00000621962.1:c.631-30_631-29insTTTGTTTGTTTTT	ENSP00000482291.1:n.631-30_631-29insTTTGTTTGTTTTT
NM_000625.4:c.631-30_631-29insTTTGTTTGTTTTT MANE Select	NP_000616.3:n.631-30_631-29insTTTGTTTGTTTTT
XM_011524859.1:c.631-30_631-29insTTTGTTTGTTTTT	XP_011523161.1:n.631-30_631-29insTTTGTTTGTTTTT
XM_011524860.1:c.628-30_628-29insTTTGTTTGTTTTT	XP_011523162.1:n.628-30_628-29insTTTGTTTGTTTTT
XM_011524861.1:c.631-30_631-29insTTTGTTTGTTTTT	XP_011523163.1:n.631-30_631-29insTTTGTTTGTTTTT
XM_011524862.1:c.-36-30_-36-29insTTTGTTTGTTTTT	XP_011523164.1:n.-36-30_-36-29insTTTGTTTGTTTTT