Canonical Allele Identifier: CA2580077835
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2133373
ClinVar RCV Id: RCV003056276
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104001_93104002dup , CM000669.2:g.93104001_93104002dup GRCh38
NC_000007.13:g.92733314_92733315dup , CM000669.1:g.92733314_92733315dup GRCh37
NC_000007.12:g.92571250_92571251dup NCBI36
NG_023419.1:g.19023_19024dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2097_2098dup MANE Select ENSP00000369292.2:p.Ser700LysfsTer19
ENST00000379958.2:c.2097_2098dup ENSP00000369292.2:p.Ser700LysfsTer19
ENST00000446617.1:c.2097_2098dup ENSP00000414529.1:p.Ser700LysfsTer19
ENST00000620985.4:c.2097_2098dup ENSP00000484636.1:p.Ser700LysfsTer19
NM_001193307.1:c.2097_2098dup NP_001180236.1:p.Ser700LysfsTer19
NM_017654.3:c.2097_2098dup NP_060124.2:p.Ser700LysfsTer19
NM_017654.4:c.2097_2098dup MANE Select NP_060124.2:p.Ser700LysfsTer19
NM_001193307.2:c.2097_2098dup NP_001180236.1:p.Ser700LysfsTer19
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Search 100 bp 3'