Canonical Allele Identifier: CA2066033149

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339705_117339708delinsCAGG , CM000674.2:g.117339705_117339708delinsCAGG	GRCh38
NC_000012.11:g.117777510_117777513delinsCAGG , CM000674.1:g.117777510_117777513delinsCAGG	GRCh37
NC_000012.10:g.116261893_116261896delinsCAGG	NCBI36
NG_011991.2:g.27070_27073delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-8219_-420-8216delinsCCTG MANE Select	ENSP00000320758.6:n.-420-8219_-420-8216delinsCCTG
ENST00000317775.10:c.-420-8219_-420-8216delinsCCTG	ENSP00000320758.6:n.-420-8219_-420-8216delinsCCTG
ENST00000549189.1:n.471-8219_471-8216delinsCCTG
ENST00000618760.4:c.-420-8219_-420-8216delinsCCTG	ENSP00000477999.1:n.-420-8219_-420-8216delinsCCTG
NM_000620.4:c.-420-8219_-420-8216delinsCCTG	NP_000611.1:n.-420-8219_-420-8216delinsCCTG
NM_001204218.1:c.-420-8219_-420-8216delinsCCTG	NP_001191147.1:n.-420-8219_-420-8216delinsCCTG
XM_011538398.1:c.-420-8219_-420-8216delinsCCTG	XP_011536700.1:n.-420-8219_-420-8216delinsCCTG
NM_000620.5:c.-420-8219_-420-8216delinsCCTG MANE Select	NP_000611.1:n.-420-8219_-420-8216delinsCCTG
NM_001204218.2:c.-420-8219_-420-8216delinsCCTG	NP_001191147.1:n.-420-8219_-420-8216delinsCCTG