Canonical Allele Identifier: CA4342885

Gene: SAMD9

Linked Data

• dbSNP Id: rs758668269
• ExAC: 7:92733273 C / CTTTCATA
• gnomAD v2: 7-92733273-C-CTTTCATA
• gnomAD v4: 7-93103960-C-CTTTCATA
• MyVariant Identifiers: chr7:g.92733273_92733274insTTTCATA (hg19) ; chr7:g.93103960_93103961insTTTCATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103964_93103970dup , CM000669.2:g.93103964_93103970dup	GRCh38
NC_000007.13:g.92733277_92733283dup , CM000669.1:g.92733277_92733283dup	GRCh37
NC_000007.12:g.92571213_92571219dup	NCBI36
NG_023419.1:g.19057_19063dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.2131_2137dup MANE Select	ENSP00000369292.2:p.Arg713IlefsTer2
ENST00000379958.2:c.2131_2137dup	ENSP00000369292.2:p.Arg713IlefsTer2
ENST00000446617.1:c.2131_2137dup	ENSP00000414529.1:p.Arg713IlefsTer2
ENST00000620985.4:c.2131_2137dup	ENSP00000484636.1:p.Arg713IlefsTer2
NM_001193307.1:c.2131_2137dup	NP_001180236.1:p.Arg713IlefsTer2
NM_017654.3:c.2131_2137dup	NP_060124.2:p.Arg713IlefsTer2
NM_017654.4:c.2131_2137dup MANE Select	NP_060124.2:p.Arg713IlefsTer2
NM_001193307.2:c.2131_2137dup	NP_001180236.1:p.Arg713IlefsTer2