Canonical Allele Identifier: CA2776961068

Gene: SAMD9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103874_93103875insCCACCCCCAAACACACCCAAC , CM000669.2:g.93103874_93103875insCCACCCCCAAACACACCCAAC	GRCh38
NC_000007.13:g.92733187_92733188insCCACCCCCAAACACACCCAAC , CM000669.1:g.92733187_92733188insCCACCCCCAAACACACCCAAC	GRCh37
NC_000007.12:g.92571123_92571124insCCACCCCCAAACACACCCAAC	NCBI36
NG_023419.1:g.19150_19151insTTGGGTGTGTTTGGGGGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG MANE Select	ENSP00000369292.2:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
ENST00000379958.2:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	ENSP00000369292.2:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
ENST00000446617.1:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	ENSP00000414529.1:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
ENST00000620985.4:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	ENSP00000484636.1:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
NM_001193307.1:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	NP_001180236.1:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
NM_017654.3:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	NP_060124.2:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
NM_017654.4:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG MANE Select	NP_060124.2:p.Cys741_Gly742insValGlyCysValTrpGlyTrp
NM_001193307.2:c.2224_2225insTTGGGTGTGTTTGGGGGTGGG	NP_001180236.1:p.Cys741_Gly742insValGlyCysValTrpGlyTrp