Canonical Allele Identifier: CA915945353

Gene: SAMD9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93102536_93102540del , CM000669.2:g.93102536_93102540del	GRCh38
NC_000007.13:g.92731849_92731853del , CM000669.1:g.92731849_92731853del	GRCh37
NC_000007.12:g.92569785_92569789del	NCBI36
NG_023419.1:g.20484_20488del

Transcript Alleles

HGVS	Amino-acid Change
NM_017654.4:c.3558_3562del MANE Select	NP_060124.2:p.Arg1187ValfsTer2
ENST00000379958.3:c.3558_3562del MANE Select	ENSP00000369292.2:p.Arg1187ValfsTer2
NM_001193307.1:c.3558_3562del	NP_001180236.1:p.Arg1187ValfsTer2
NM_001193307.2:c.3558_3562del	NP_001180236.1:p.Arg1187ValfsTer2
NM_017654.3:c.3558_3562del	NP_060124.2:p.Arg1187ValfsTer2
ENST00000379958.2:c.3558_3562del	ENSP00000369292.2:p.Arg1187ValfsTer2
ENST00000446617.1:c.3558_3562del	ENSP00000414529.1:p.Arg1187ValfsTer2
ENST00000620985.4:c.3558_3562del	ENSP00000484636.1:p.Arg1187ValfsTer2