Canonical Allele Identifier: CA2636788408

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769540-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769547_27769549del , CM000679.2:g.27769547_27769549del	GRCh38
NC_000017.10:g.26096573_26096575del , CM000679.1:g.26096573_26096575del	GRCh37
NC_000017.9:g.23120700_23120702del	NCBI36
NG_011470.1:g.35987_35989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2587_*2589del	ENSP00000513259.1:n.*2587_*2589del
ENST00000697338.1:c.1699_1701del	ENSP00000513260.1:n.1699_1701del
ENST00000697339.1:c.885_887del	ENSP00000513261.1:p.Asn295del
ENST00000697340.1:c.*568_*570del	ENSP00000513262.1:n.*568_*570del
ENST00000697341.1:n.1821_1823del
ENST00000313735.11:c.1851_1853del MANE Select	ENSP00000327251.6:p.Asn617del
ENST00000646938.1:c.1848_1850del	ENSP00000494870.1:p.Asn616del
ENST00000313735.10:c.1851_1853del	ENSP00000327251.6:p.Asn617del
ENST00000621962.1:c.1734_1736del	ENSP00000482291.1:p.Asn578del
NM_000625.4:c.1851_1853del MANE Select	NP_000616.3:p.Asn617del
XM_011524859.1:c.1851_1853del	XP_011523161.1:p.Asn617del
XM_011524860.1:c.1848_1850del	XP_011523162.1:p.Asn616del
XM_011524861.1:c.1851_1853del	XP_011523163.1:p.Asn617del
XM_011524862.1:c.1185_1187del	XP_011523164.1:p.Asn395del