Canonical Allele Identifier: CA2573157081
Gene: SAMHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459517
ClinVar RCV Id: RCV001959037
dbSNP Id: rs2146131738

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.36930564_36930783delinsAATTTC , CM000682.2:g.36930564_36930783delinsAATTTC GRCh38
NC_000020.10:g.35558967_35559186delinsAATTTC , CM000682.1:g.35558967_35559186delinsAATTTC GRCh37
NC_000020.9:g.34992381_34992600delinsAATTTC NCBI36
NG_017059.1:g.26061_26280delinsGAAATT , LRG_281:g.26061_26280delinsGAAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644114.2:c.602_625+196delinsGAAATT
ENST00000644250.2:c.602_625+196delinsGAAATT
ENST00000644688.2:n.664_687+196delinsGAAATT
ENST00000645444.2:c.602_625+196delinsGAAATT
ENST00000682773.1:c.602_625+196delinsGAAATT
ENST00000683720.1:c.602_625+196delinsGAAATT
ENST00000683766.1:c.602_625+196delinsGAAATT
ENST00000262878.5:c.602_625+196delinsGAAATT
ENST00000642186.1:c.602_625+196delinsGAAATT
ENST00000642246.1:c.*281_*304+196delinsGAAATT
ENST00000642616.1:c.*79_*102+196delinsGAAATT
ENST00000643078.1:c.*281_*304+196delinsGAAATT
ENST00000643161.1:n.165_188+196delinsGAAATT
ENST00000643918.1:c.602_625+196delinsGAAATT
ENST00000644114.1:c.528_551+196delinsGAAATT
ENST00000645033.1:c.602_625+196delinsGAAATT
ENST00000645444.1:c.370_393+196delinsGAAATT
ENST00000646066.1:c.602_625+196delinsGAAATT
ENST00000646121.1:c.319_342+196delinsGAAATT
ENST00000646673.2:c.602_625+196delinsGAAATT
ENST00000646866.1:c.*51_*74+196delinsGAAATT
ENST00000646869.1:c.602_625+196delinsGAAATT
ENST00000646904.1:c.602_625+196delinsGAAATT
ENST00000647095.1:n.673_696+196delinsGAAATT
ENST00000647163.1:c.602_625+196delinsGAAATT
ENST00000647459.1:n.629_652+196delinsGAAATT
ENST00000262878.4:c.602_625+196delinsGAAATT
NM_015474.3:c.602_625+196delinsGAAATT , LRG_281t1:c.602_625+196delinsGAAATT
XM_005260384.2:c.602_625+196delinsGAAATT
XM_011528761.1:c.602_625+196delinsGAAATT
NM_001363729.1:c.602_625+196delinsGAAATT
NM_001363733.1:c.602_625+196delinsGAAATT
NM_001363729.2:c.602_625+196delinsGAAATT
NM_001363733.2:c.602_625+196delinsGAAATT
NM_015474.4:c.602_625+196delinsGAAATT