Canonical Allele Identifier: CA1726201401
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1791585337
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104036_93104037del , CM000669.2:g.93104036_93104037del GRCh38
NC_000007.13:g.92733349_92733350del , CM000669.1:g.92733349_92733350del GRCh37
NC_000007.12:g.92571285_92571286del NCBI36
NG_023419.1:g.18987_18988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2061_2062del MANE Select ENSP00000369292.2:p.Lys688SerfsTer11
ENST00000379958.2:c.2061_2062del ENSP00000369292.2:p.Lys688SerfsTer11
ENST00000446617.1:c.2061_2062del ENSP00000414529.1:p.Lys688SerfsTer11
ENST00000620985.4:c.2061_2062del ENSP00000484636.1:p.Lys688SerfsTer11
NM_001193307.1:c.2061_2062del NP_001180236.1:p.Lys688SerfsTer11
NM_017654.3:c.2061_2062del NP_060124.2:p.Lys688SerfsTer11
NM_017654.4:c.2061_2062del MANE Select NP_060124.2:p.Lys688SerfsTer11
NM_001193307.2:c.2061_2062del NP_001180236.1:p.Lys688SerfsTer11
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