Canonical Allele Identifier: CA1726201372
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1791584948

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104029_93104030insGTGG , CM000669.2:g.93104029_93104030insGTGG GRCh38
NC_000007.13:g.92733342_92733343insGTGG , CM000669.1:g.92733342_92733343insGTGG GRCh37
NC_000007.12:g.92571278_92571279insGTGG NCBI36
NG_023419.1:g.18995_18996insCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2069_2070insCACC MANE Select ENSP00000369292.2:p.Trp691ThrfsTer10
ENST00000379958.2:c.2069_2070insCACC ENSP00000369292.2:p.Trp691ThrfsTer10
ENST00000446617.1:c.2069_2070insCACC ENSP00000414529.1:p.Trp691ThrfsTer10
ENST00000620985.4:c.2069_2070insCACC ENSP00000484636.1:p.Trp691ThrfsTer10
NM_001193307.1:c.2069_2070insCACC NP_001180236.1:p.Trp691ThrfsTer10
NM_017654.3:c.2069_2070insCACC NP_060124.2:p.Trp691ThrfsTer10
NM_017654.4:c.2069_2070insCACC MANE Select NP_060124.2:p.Trp691ThrfsTer10
NM_001193307.2:c.2069_2070insCACC NP_001180236.1:p.Trp691ThrfsTer10