Canonical Allele Identifier: CA2739278680
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2818324
ClinVar RCV Id: RCV003713661
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103948_93103950del , CM000669.2:g.93103948_93103950del GRCh38
NC_000007.13:g.92733261_92733263del , CM000669.1:g.92733261_92733263del GRCh37
NC_000007.12:g.92571197_92571199del NCBI36
NG_023419.1:g.19074_19076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2148_2150del MANE Select ENSP00000369292.2:p.Met717del
ENST00000379958.2:c.2148_2150del ENSP00000369292.2:p.Met717del
ENST00000446617.1:c.2148_2150del ENSP00000414529.1:p.Met717del
ENST00000620985.4:c.2148_2150del ENSP00000484636.1:p.Met717del
NM_001193307.1:c.2148_2150del NP_001180236.1:p.Met717del
NM_017654.3:c.2148_2150del NP_060124.2:p.Met717del
NM_017654.4:c.2148_2150del MANE Select NP_060124.2:p.Met717del
NM_001193307.2:c.2148_2150del NP_001180236.1:p.Met717del
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