Canonical Allele Identifier: CA2512802463

Gene: NOS3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001920_151001921insA , CM000669.2:g.151001920_151001921insA	GRCh38
NC_000007.13:g.150699008_150699009insA , CM000669.1:g.150699008_150699009insA	GRCh37
NC_000007.12:g.150329941_150329942insA	NCBI36
NG_011992.1:g.15862_15863insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1602_1603insA MANE Select	ENSP00000297494.3:p.Ala535SerfsTer13
ENST00000297494.7:c.1602_1603insA	ENSP00000297494.3:p.Ala535SerfsTer13
ENST00000460603.1:n.54_55insA
ENST00000461406.5:c.984_985insA	ENSP00000417143.1:p.Ala329SerfsTer13
ENST00000467517.1:c.1602_1603insA	ENSP00000420551.1:p.Ala535SerfsTer13
ENST00000484524.5:c.1602_1603insA	ENSP00000420215.1:p.Ala535SerfsTer13
NM_000603.4:c.1602_1603insA	NP_000594.2:p.Ala535SerfsTer13
NM_001160109.1:c.1602_1603insA	NP_001153581.1:p.Ala535SerfsTer13
NM_001160110.1:c.1602_1603insA	NP_001153582.1:p.Ala535SerfsTer13
NM_001160111.1:c.1602_1603insA	NP_001153583.1:p.Ala535SerfsTer13
XM_006716002.2:c.1602_1603insA	XP_006716065.1:p.Ala535SerfsTer13
NM_000603.5:c.1602_1603insA MANE Select	NP_000594.2:p.Ala535SerfsTer13
NM_001160109.2:c.1602_1603insA	NP_001153581.1:p.Ala535SerfsTer13