Canonical Allele Identifier: CA2066005317

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117314297_117314309delinsTCTGTTGAGAGTG , CM000674.2:g.117314297_117314309delinsTCTGTTGAGAGTG	GRCh38
NC_000012.11:g.117752102_117752114delinsTCTGTTGAGAGTG , CM000674.1:g.117752102_117752114delinsTCTGTTGAGAGTG	GRCh37
NC_000012.10:g.116236485_116236497delinsTCTGTTGAGAGTG	NCBI36
NG_011991.2:g.52469_52481delinsCACTCTCAACAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.726-2717_726-2705delinsCACTCTCAACAGA MANE Select	ENSP00000320758.6:n.726-2717_726-2705deli...
ENST00000317775.10:c.726-2717_726-2705delinsCACTCTCAACAGA	ENSP00000320758.6:n.726-2717_726-2705deli...
ENST00000338101.8:c.726-2717_726-2705delinsCACTCTCAACAGA	ENSP00000337459.4:n.726-2717_726-2705deli...
ENST00000344089.4:c.723-2717_723-2705delinsCACTCTCAACAGA	ENSP00000339862.4:n.723-2717_723-2705deli...
ENST00000618760.4:c.726-2717_726-2705delinsCACTCTCAACAGA	ENSP00000477999.1:n.726-2717_726-2705deli...
NM_000620.4:c.726-2717_726-2705delinsCACTCTCAACAGA	NP_000611.1:n.726-2717_726-2705delinsCACT...
NM_001204218.1:c.726-2717_726-2705delinsCACTCTCAACAGA	NP_001191147.1:n.726-2717_726-2705delinsC...
XM_011538398.1:c.726-2717_726-2705delinsCACTCTCAACAGA	XP_011536700.1:n.726-2717_726-2705delinsC...
NM_000620.5:c.726-2717_726-2705delinsCACTCTCAACAGA MANE Select	NP_000611.1:n.726-2717_726-2705delinsCACT...
NM_001204218.2:c.726-2717_726-2705delinsCACTCTCAACAGA	NP_001191147.1:n.726-2717_726-2705delinsC...