Canonical Allele Identifier: CA2636789338

Gene: NOS2

Linked Data

• gnomAD v4: 17-27781900-TCCCTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27781901_27781906del , CM000679.2:g.27781901_27781906del	GRCh38
NC_000017.10:g.26108927_26108932del , CM000679.1:g.26108927_26108932del	GRCh37
NC_000017.9:g.23133054_23133059del	NCBI36
NG_011470.1:g.23624_23629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*168+109_*168+114del	ENSP00000513259.1:n.*168+109_*168+114del
ENST00000697338.1:c.570+109_570+114del	ENSP00000513260.1:n.570+109_570+114del
ENST00000697339.1:c.315+6903_315+6908del	ENSP00000513261.1:n.315+6903_315+6908del
ENST00000697340.1:c.719+109_719+114del	ENSP00000513262.1:n.719+109_719+114del
ENST00000697341.1:n.692+109_692+114del
ENST00000313735.11:c.722+109_722+114del MANE Select	ENSP00000327251.6:n.722+109_722+114del
ENST00000646938.1:c.719+109_719+114del	ENSP00000494870.1:n.719+109_719+114del
ENST00000313735.10:c.722+109_722+114del	ENSP00000327251.6:n.722+109_722+114del
ENST00000621962.1:c.722+109_722+114del	ENSP00000482291.1:n.722+109_722+114del
NM_000625.4:c.722+109_722+114del MANE Select	NP_000616.3:n.722+109_722+114del
XM_011524859.1:c.722+109_722+114del	XP_011523161.1:n.722+109_722+114del
XM_011524860.1:c.719+109_719+114del	XP_011523162.1:n.719+109_719+114del
XM_011524861.1:c.722+109_722+114del	XP_011523163.1:n.722+109_722+114del
XM_011524862.1:c.56+109_56+114del	XP_011523164.1:n.56+109_56+114del