Canonical Allele Identifier: CA1726201353
Gene: SAMD9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104025_93104028delinsCCAT , CM000669.2:g.93104025_93104028delinsCCAT GRCh38
NC_000007.13:g.92733338_92733341delinsCCAT , CM000669.1:g.92733338_92733341delinsCCAT GRCh37
NC_000007.12:g.92571274_92571277delinsCCAT NCBI36
NG_023419.1:g.18996_18999delinsATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2070_2073delinsATGG MANE Select ENSP00000369292.2:p.Ser690=
ENST00000379958.2:c.2070_2073delinsATGG ENSP00000369292.2:p.Ser690=
ENST00000446617.1:c.2070_2073delinsATGG ENSP00000414529.1:p.Ser690=
ENST00000620985.4:c.2070_2073delinsATGG ENSP00000484636.1:p.Ser690=
NM_001193307.1:c.2070_2073delinsATGG NP_001180236.1:p.Ser690=
NM_017654.3:c.2070_2073delinsATGG NP_060124.2:p.Ser690=
NM_017654.4:c.2070_2073delinsATGG MANE Select NP_060124.2:p.Ser690=
NM_001193307.2:c.2070_2073delinsATGG NP_001180236.1:p.Ser690=
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