Canonical Allele Identifier: CA2577388976

Gene: SAMHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36930695_36930698dup , CM000682.2:g.36930695_36930698dup	GRCh38
NC_000020.10:g.35559098_35559101dup , CM000682.1:g.35559098_35559101dup	GRCh37
NC_000020.9:g.34992512_34992515dup	NCBI36
NG_017059.1:g.26146_26149dup , LRG_281:g.26146_26149dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644114.2:c.625+62_625+65dup	ENSP00000494354.2:n.625+62_625+65dup
ENST00000644250.2:c.625+62_625+65dup	ENSP00000493810.2:n.625+62_625+65dup
ENST00000644688.2:n.687+62_687+65dup
ENST00000645444.2:c.625+62_625+65dup	ENSP00000495381.2:n.625+62_625+65dup
ENST00000682773.1:c.625+62_625+65dup	ENSP00000507178.1:n.625+62_625+65dup
ENST00000683720.1:c.625+62_625+65dup	ENSP00000508219.1:n.625+62_625+65dup
ENST00000683766.1:c.625+62_625+65dup	ENSP00000506877.1:n.625+62_625+65dup
ENST00000262878.5:c.625+62_625+65dup	ENSP00000262878.5:n.625+62_625+65dup
ENST00000642186.1:c.625+62_625+65dup	ENSP00000494436.1:n.625+62_625+65dup
ENST00000642246.1:c.*304+62_*304+65dup	ENSP00000494979.1:n.*304+62_*304+65dup
ENST00000642616.1:c.*102+62_*102+65dup	ENSP00000494271.1:n.*102+62_*102+65dup
ENST00000643078.1:c.*304+62_*304+65dup	ENSP00000496474.1:n.*304+62_*304+65dup
ENST00000643161.1:n.188+62_188+65dup
ENST00000643918.1:c.625+62_625+65dup	ENSP00000493928.1:n.625+62_625+65dup
ENST00000644114.1:c.551+62_551+65dup
ENST00000645033.1:c.625+62_625+65dup	ENSP00000494520.1:n.625+62_625+65dup
ENST00000645444.1:c.393+62_393+65dup
ENST00000646066.1:c.625+62_625+65dup	ENSP00000495432.1:n.625+62_625+65dup
ENST00000646121.1:c.342+62_342+65dup
ENST00000646673.2:c.625+62_625+65dup MANE Select	ENSP00000493536.2:n.625+62_625+65dup
ENST00000646866.1:c.*74+62_*74+65dup	ENSP00000495737.1:n.*74+62_*74+65dup
ENST00000646869.1:c.625+62_625+65dup	ENSP00000495667.1:n.625+62_625+65dup
ENST00000646904.1:c.625+62_625+65dup	ENSP00000494823.1:n.625+62_625+65dup
ENST00000647095.1:n.696+62_696+65dup
ENST00000647163.1:c.625+62_625+65dup	ENSP00000494313.1:n.625+62_625+65dup
ENST00000647459.1:n.652+62_652+65dup
ENST00000262878.4:c.625+62_625+65dup	ENSP00000262878.4:n.625+62_625+65dup
NM_015474.3:c.625+62_625+65dup , LRG_281t1:c.625+62_625+65dup	NP_056289.2:n.625+62_625+65dup
XM_005260384.2:c.625+62_625+65dup	XP_005260441.1:n.625+62_625+65dup
XM_011528761.1:c.625+62_625+65dup	XP_011527063.1:n.625+62_625+65dup
NM_001363729.1:c.625+62_625+65dup	NP_001350658.1:n.625+62_625+65dup
NM_001363733.1:c.625+62_625+65dup	NP_001350662.1:n.625+62_625+65dup
NM_001363729.2:c.625+62_625+65dup	NP_001350658.1:n.625+62_625+65dup
NM_001363733.2:c.625+62_625+65dup	NP_001350662.1:n.625+62_625+65dup
NM_015474.4:c.625+62_625+65dup MANE Select	NP_056289.2:n.625+62_625+65dup