Canonical Allele Identifier: CA2636789347

Gene: NOS2

Linked Data

• gnomAD v4: 17-27781904-TGGTTTCTCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27781906_27781916del , CM000679.2:g.27781906_27781916del	GRCh38
NC_000017.10:g.26108932_26108942del , CM000679.1:g.26108932_26108942del	GRCh37
NC_000017.9:g.23133059_23133069del	NCBI36
NG_011470.1:g.23615_23625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*168+100_*168+110del	ENSP00000513259.1:n.*168+100_*168+110del
ENST00000697338.1:c.570+100_570+110del	ENSP00000513260.1:n.570+100_570+110del
ENST00000697339.1:c.315+6894_315+6904del	ENSP00000513261.1:n.315+6894_315+6904del
ENST00000697340.1:c.719+100_719+110del	ENSP00000513262.1:n.719+100_719+110del
ENST00000697341.1:n.692+100_692+110del
ENST00000313735.11:c.722+100_722+110del MANE Select	ENSP00000327251.6:n.722+100_722+110del
ENST00000646938.1:c.719+100_719+110del	ENSP00000494870.1:n.719+100_719+110del
ENST00000313735.10:c.722+100_722+110del	ENSP00000327251.6:n.722+100_722+110del
ENST00000621962.1:c.722+100_722+110del	ENSP00000482291.1:n.722+100_722+110del
NM_000625.4:c.722+100_722+110del MANE Select	NP_000616.3:n.722+100_722+110del
XM_011524859.1:c.722+100_722+110del	XP_011523161.1:n.722+100_722+110del
XM_011524860.1:c.719+100_719+110del	XP_011523162.1:n.719+100_719+110del
XM_011524861.1:c.722+100_722+110del	XP_011523163.1:n.722+100_722+110del
XM_011524862.1:c.56+100_56+110del	XP_011523164.1:n.56+100_56+110del