Canonical Allele Identifier: CA1726201321

Gene: SAMD9

Linked Data

• dbSNP Id: rs1791584500

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104017_93104018insGGTGGCAA , CM000669.2:g.93104017_93104018insGGTGGCAA	GRCh38
NC_000007.13:g.92733330_92733331insGGTGGCAA , CM000669.1:g.92733330_92733331insGGTGGCAA	GRCh37
NC_000007.12:g.92571266_92571267insGGTGGCAA	NCBI36
NG_023419.1:g.19007_19008insTGCCACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2081_2082insTGCCACCT MANE Select	ENSP00000369292.2:p.Tyr695AlafsTer26
ENST00000379958.2:c.2081_2082insTGCCACCT	ENSP00000369292.2:p.Tyr695AlafsTer26
ENST00000446617.1:c.2081_2082insTGCCACCT	ENSP00000414529.1:p.Tyr695AlafsTer26
ENST00000620985.4:c.2081_2082insTGCCACCT	ENSP00000484636.1:p.Tyr695AlafsTer26
NM_001193307.1:c.2081_2082insTGCCACCT	NP_001180236.1:p.Tyr695AlafsTer26
NM_017654.3:c.2081_2082insTGCCACCT	NP_060124.2:p.Tyr695AlafsTer26
NM_017654.4:c.2081_2082insTGCCACCT MANE Select	NP_060124.2:p.Tyr695AlafsTer26
NM_001193307.2:c.2081_2082insTGCCACCT	NP_001180236.1:p.Tyr695AlafsTer26