Canonical Allele Identifier: CA2580098155

Gene: SAMHD1

Linked Data

• ClinVar Variation Id: 2308668
• ClinVar RCV Id: RCV002875212
• gnomAD v4: 20-36935183-TAATTACCTAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36935189_36935200del , CM000682.2:g.36935189_36935200del	GRCh38
NC_000020.10:g.35563592_35563603del , CM000682.1:g.35563592_35563603del	GRCh37
NC_000020.9:g.34997006_34997017del	NCBI36
NG_017059.1:g.21649_21660del , LRG_281:g.21649_21660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.349-6_354del
ENST00000644250.2:c.349-6_354del
ENST00000644688.2:n.411-6_416del
ENST00000645444.2:c.349-6_354del
ENST00000682773.1:c.349-6_354del
ENST00000683720.1:c.349-6_354del
ENST00000683766.1:c.349-6_354del
ENST00000262878.5:c.349-6_354del
ENST00000642186.1:c.349-6_354del
ENST00000642246.1:c.*28-6_*33del
ENST00000642616.1:c.349-6_354del
ENST00000643003.1:n.9_20del
ENST00000643078.1:c.*28-6_*33del
ENST00000643918.1:c.349-6_354del
ENST00000644114.1:c.275-6_280del
ENST00000644370.1:n.290-6_295del
ENST00000645033.1:c.349-6_354del
ENST00000645444.1:c.117-6_122del
ENST00000646066.1:c.349-6_354del
ENST00000646121.1:c.227-4320_227-4309del
ENST00000646673.2:c.349-6_354del
ENST00000646866.1:c.349-4320_349-4309del	ENSP00000495737.1:n.349-4320_349-4309del
ENST00000646869.1:c.349-6_354del
ENST00000646904.1:c.349-6_354del
ENST00000647095.1:n.420-6_425del
ENST00000647163.1:c.349-6_354del
ENST00000647459.1:n.376-6_381del
ENST00000262878.4:c.349-6_354del
NM_015474.3:c.349-6_354del , LRG_281t1:c.349-6_354del
XM_005260384.2:c.349-6_354del
XM_011528761.1:c.349-6_354del
NM_001363729.1:c.349-6_354del
NM_001363733.1:c.349-6_354del
NM_001363729.2:c.349-6_354del
NM_001363733.2:c.349-6_354del
NM_015474.4:c.349-6_354del