Canonical Allele Identifier: CA4342881

Gene: SAMD9

Linked Data

• ClinVar Variation Id: 587617
• ClinVar RCV Id: RCV000714858 ; RCV002532982
• dbSNP Id: rs753146043
• ExAC: 7:92733251 GT / G
• gnomAD v2: 7-92733251-GT-G
• gnomAD v3: 7-93103938-GT-G
• gnomAD v4: 7-93103938-GT-G
• MyVariant Identifiers: chr7:g.92733252del (hg19) ; chr7:g.93103939del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103942del , CM000669.2:g.93103942del	GRCh38
NC_000007.13:g.92733255del , CM000669.1:g.92733255del	GRCh37
NC_000007.12:g.92571191del	NCBI36
NG_023419.1:g.19085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2159del MANE Select	ENSP00000369292.2:p.Asn720ThrfsTer?
ENST00000379958.2:c.2159del	ENSP00000369292.2:p.Asn720ThrfsTer?
ENST00000446617.1:c.2159del	ENSP00000414529.1:p.Asn720ThrfsTer?
ENST00000620985.4:c.2159del	ENSP00000484636.1:p.Asn720ThrfsTer?
NM_001193307.1:c.2159del	NP_001180236.1:p.Asn720ThrfsTer?
NM_017654.3:c.2159del	NP_060124.2:p.Asn720ThrfsTer?
NM_017654.4:c.2159del MANE Select	NP_060124.2:p.Asn720ThrfsTer?
NM_001193307.2:c.2159del	NP_001180236.1:p.Asn720ThrfsTer?