Canonical Allele Identifier: CA2695212917
Community Standard Title: NM_001112704.2(VAX1):c.453_454delinsAA (p.Arg152Ser)
Gene: VAX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117134559_117134560delinsTT , CM000672.2:g.117134559_117134560delinsTT GRCh38
NC_000010.10:g.118894070_118894071delinsTT , CM000672.1:g.118894070_118894071delinsTT GRCh37
NC_000010.9:g.118884060_118884061delinsTT NCBI36
NG_012317.1:g.8742_8743delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_001112704.2:c.453_454delinsAA MANE Select NP_001106175.1:p.Arg152Ser
ENST00000369206.6:c.453_454delinsAA MANE Select ENSP00000358207.4:p.Arg152Ser
NM_001112704.1:c.453_454delinsAA NP_001106175.1:p.Arg152Ser
NM_199131.2:c.429+1912_429+1913delinsAA NP_954582.1:n.429+1912_429+1913delinsAA
NM_199131.3:c.429+1912_429+1913delinsAA NP_954582.1:n.429+1912_429+1913delinsAA
ENST00000277905.6:c.429+1912_429+1913delinsAA ENSP00000277905.2:n.429+1912_429+1913delinsAA
ENST00000369206.5:c.453_454delinsAA ENSP00000358207.4:p.Arg152Ser