Canonical Allele Identifier: CA684137425
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1269385676
MyVariant Identifiers: chr12:g.117795846del (hg19) chr12:g.117358041del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117358041del , CM000674.2:g.117358041del GRCh38
NC_000012.11:g.117795846del , CM000674.1:g.117795846del GRCh37
NC_000012.10:g.116280229del NCBI36
NG_011991.2:g.8737del

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.-421+3471del MANE Select ENSP00000320758.6:n.-421+3471del
ENST00000317775.10:c.-421+3471del ENSP00000320758.6:n.-421+3471del
ENST00000477584.1:n.118+3471del
ENST00000549189.1:n.471-26552del
ENST00000618760.4:c.-421+3471del ENSP00000477999.1:n.-421+3471del
NM_000620.4:c.-421+3471del NP_000611.1:n.-421+3471del
NM_001204218.1:c.-421+3471del NP_001191147.1:n.-421+3471del
XM_011538398.1:c.-421+950del XP_011536700.1:n.-421+950del
NM_000620.5:c.-421+3471del MANE Select NP_000611.1:n.-421+3471del
NM_001204218.2:c.-421+3471del NP_001191147.1:n.-421+3471del
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