Canonical Allele Identifier: CA2652744074

Gene: SAMHD1

Linked Data

• gnomAD v4: 20-36930713-ATATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36930718_36930722del , CM000682.2:g.36930718_36930722del	GRCh38
NC_000020.10:g.35559121_35559125del , CM000682.1:g.35559121_35559125del	GRCh37
NC_000020.9:g.34992535_34992539del	NCBI36
NG_017059.1:g.26126_26130del , LRG_281:g.26126_26130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.625+42_625+46del	ENSP00000494354.2:n.625+42_625+46del
ENST00000644250.2:c.625+42_625+46del	ENSP00000493810.2:n.625+42_625+46del
ENST00000644688.2:n.687+42_687+46del
ENST00000645444.2:c.625+42_625+46del	ENSP00000495381.2:n.625+42_625+46del
ENST00000682773.1:c.625+42_625+46del	ENSP00000507178.1:n.625+42_625+46del
ENST00000683720.1:c.625+42_625+46del	ENSP00000508219.1:n.625+42_625+46del
ENST00000683766.1:c.625+42_625+46del	ENSP00000506877.1:n.625+42_625+46del
ENST00000262878.5:c.625+42_625+46del	ENSP00000262878.5:n.625+42_625+46del
ENST00000642186.1:c.625+42_625+46del	ENSP00000494436.1:n.625+42_625+46del
ENST00000642246.1:c.*304+42_*304+46del	ENSP00000494979.1:n.*304+42_*304+46del
ENST00000642616.1:c.*102+42_*102+46del	ENSP00000494271.1:n.*102+42_*102+46del
ENST00000643078.1:c.*304+42_*304+46del	ENSP00000496474.1:n.*304+42_*304+46del
ENST00000643161.1:n.188+42_188+46del
ENST00000643918.1:c.625+42_625+46del	ENSP00000493928.1:n.625+42_625+46del
ENST00000644114.1:c.551+42_551+46del
ENST00000645033.1:c.625+42_625+46del	ENSP00000494520.1:n.625+42_625+46del
ENST00000645444.1:c.393+42_393+46del
ENST00000646066.1:c.625+42_625+46del	ENSP00000495432.1:n.625+42_625+46del
ENST00000646121.1:c.342+42_342+46del
ENST00000646673.2:c.625+42_625+46del MANE Select	ENSP00000493536.2:n.625+42_625+46del
ENST00000646866.1:c.*74+42_*74+46del	ENSP00000495737.1:n.*74+42_*74+46del
ENST00000646869.1:c.625+42_625+46del	ENSP00000495667.1:n.625+42_625+46del
ENST00000646904.1:c.625+42_625+46del	ENSP00000494823.1:n.625+42_625+46del
ENST00000647095.1:n.696+42_696+46del
ENST00000647163.1:c.625+42_625+46del	ENSP00000494313.1:n.625+42_625+46del
ENST00000647459.1:n.652+42_652+46del
ENST00000262878.4:c.625+42_625+46del	ENSP00000262878.4:n.625+42_625+46del
NM_015474.3:c.625+42_625+46del , LRG_281t1:c.625+42_625+46del	NP_056289.2:n.625+42_625+46del
XM_005260384.2:c.625+42_625+46del	XP_005260441.1:n.625+42_625+46del
XM_011528761.1:c.625+42_625+46del	XP_011527063.1:n.625+42_625+46del
NM_001363729.1:c.625+42_625+46del	NP_001350658.1:n.625+42_625+46del
NM_001363733.1:c.625+42_625+46del	NP_001350662.1:n.625+42_625+46del
NM_001363729.2:c.625+42_625+46del	NP_001350658.1:n.625+42_625+46del
NM_001363733.2:c.625+42_625+46del	NP_001350662.1:n.625+42_625+46del
NM_015474.4:c.625+42_625+46del MANE Select	NP_056289.2:n.625+42_625+46del