Canonical Allele Identifier: CA2776961072

Gene: SAMD9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103961_93103962insG , CM000669.2:g.93103961_93103962insG	GRCh38
NC_000007.13:g.92733274_92733275insG , CM000669.1:g.92733274_92733275insG	GRCh37
NC_000007.12:g.92571210_92571211insG	NCBI36
NG_023419.1:g.19062_19063insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2136_2137insC MANE Select	ENSP00000369292.2:p.Arg713GlnfsTer3
ENST00000379958.2:c.2136_2137insC	ENSP00000369292.2:p.Arg713GlnfsTer3
ENST00000446617.1:c.2136_2137insC	ENSP00000414529.1:p.Arg713GlnfsTer3
ENST00000620985.4:c.2136_2137insC	ENSP00000484636.1:p.Arg713GlnfsTer3
NM_001193307.1:c.2136_2137insC	NP_001180236.1:p.Arg713GlnfsTer3
NM_017654.3:c.2136_2137insC	NP_060124.2:p.Arg713GlnfsTer3
NM_017654.4:c.2136_2137insC MANE Select	NP_060124.2:p.Arg713GlnfsTer3
NM_001193307.2:c.2136_2137insC	NP_001180236.1:p.Arg713GlnfsTer3