Canonical Allele Identifier: CA2683736274

Gene: SAMD9

Linked Data

• gnomAD v4: 7-93104040-ACCTCGATAGAAGTCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104045_93104060del , CM000669.2:g.93104045_93104060del	GRCh38
NC_000007.13:g.92733358_92733373del , CM000669.1:g.92733358_92733373del	GRCh37
NC_000007.12:g.92571294_92571309del	NCBI36
NG_023419.1:g.18968_18983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2042_2057del MANE Select	ENSP00000369292.2:p.Glu681ValfsTer?
ENST00000379958.2:c.2042_2057del	ENSP00000369292.2:p.Glu681ValfsTer?
ENST00000446617.1:c.2042_2057del	ENSP00000414529.1:p.Glu681ValfsTer?
ENST00000620985.4:c.2042_2057del	ENSP00000484636.1:p.Glu681ValfsTer?
NM_001193307.1:c.2042_2057del	NP_001180236.1:p.Glu681ValfsTer?
NM_017654.3:c.2042_2057del	NP_060124.2:p.Glu681ValfsTer?
NM_017654.4:c.2042_2057del MANE Select	NP_060124.2:p.Glu681ValfsTer?
NM_001193307.2:c.2042_2057del	NP_001180236.1:p.Glu681ValfsTer?