Canonical Allele Identifier: CA2580098153

Gene: SAMHD1

Linked Data

• ClinVar Variation Id: 2026662
• ClinVar RCV Id: RCV002889278

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36935169_36935190dup , CM000682.2:g.36935169_36935190dup	GRCh38
NC_000020.10:g.35563572_35563593dup , CM000682.1:g.35563572_35563593dup	GRCh37
NC_000020.9:g.34996986_34997007dup	NCBI36
NG_017059.1:g.21656_21677dup , LRG_281:g.21656_21677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.350_371dup
ENST00000644250.2:c.350_371dup
ENST00000644688.2:n.412_433dup
ENST00000645444.2:c.350_371dup
ENST00000682773.1:c.350_371dup
ENST00000683720.1:c.350_371dup
ENST00000683766.1:c.350_371dup
ENST00000262878.5:c.350_371dup
ENST00000642186.1:c.350_371dup
ENST00000642246.1:c.*29_*50dup
ENST00000642616.1:c.350_371dup
ENST00000643003.1:n.16_37dup
ENST00000643078.1:c.*29_*50dup
ENST00000643918.1:c.350_371dup
ENST00000644114.1:c.276_297dup
ENST00000644370.1:n.291_312dup
ENST00000645033.1:c.350_371dup
ENST00000645444.1:c.118_139dup
ENST00000646066.1:c.350_371dup
ENST00000646121.1:c.227-4313_227-4292dup
ENST00000646673.2:c.350_371dup
ENST00000646866.1:c.349-4313_349-4292dup	ENSP00000495737.1:n.349-4313_349-4292dup
ENST00000646869.1:c.350_371dup
ENST00000646904.1:c.350_371dup
ENST00000647095.1:n.421_442dup
ENST00000647163.1:c.350_371dup
ENST00000647459.1:n.377_398dup
ENST00000262878.4:c.350_371dup
NM_015474.3:c.350_371dup , LRG_281t1:c.350_371dup
XM_005260384.2:c.350_371dup
XM_011528761.1:c.350_371dup
NM_001363729.1:c.350_371dup
NM_001363733.1:c.350_371dup
NM_001363729.2:c.350_371dup
NM_001363733.2:c.350_371dup
NM_015474.4:c.350_371dup