Canonical Allele Identifier: CA2542783721

Gene: NOS3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001918del , CM000669.2:g.151001918del	GRCh38
NC_000007.13:g.150699006del , CM000669.1:g.150699006del	GRCh37
NC_000007.12:g.150329939del	NCBI36
NG_011992.1:g.15860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1600del MANE Select	ENSP00000297494.3:p.Tyr534ThrfsTer?
ENST00000297494.7:c.1600del	ENSP00000297494.3:p.Tyr534ThrfsTer?
ENST00000460603.1:n.52del
ENST00000461406.5:c.982del	ENSP00000417143.1:p.Tyr328ThrfsTer?
ENST00000467517.1:c.1600del	ENSP00000420551.1:p.Tyr534ThrfsTer?
ENST00000484524.5:c.1600del	ENSP00000420215.1:p.Tyr534ThrfsTer?
NM_000603.4:c.1600del	NP_000594.2:p.Tyr534ThrfsTer?
NM_001160109.1:c.1600del	NP_001153581.1:p.Tyr534ThrfsTer?
NM_001160110.1:c.1600del	NP_001153582.1:p.Tyr534ThrfsTer?
NM_001160111.1:c.1600del	NP_001153583.1:p.Tyr534ThrfsTer?
XM_006716002.2:c.1600del	XP_006716065.1:p.Tyr534ThrfsTer?
NM_000603.5:c.1600del MANE Select	NP_000594.2:p.Tyr534ThrfsTer?
NM_001160109.2:c.1600del	NP_001153581.1:p.Tyr534ThrfsTer?