Canonical Allele Identifier: CA635405244

Gene: SAMHD1

Linked Data

• ClinVar Variation Id: 1935807
• ClinVar RCV Id: RCV002639099
• dbSNP Id: rs1192946422
• gnomAD v2: 20-35532647-GTCC-G
• gnomAD v3: 20-36904244-GTCC-G
• gnomAD v4: 20-36904244-GTCC-G
• MyVariant Identifiers: chr20:g.35532648_35532650del (hg19) ; chr20:g.36904245_36904247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36904249_36904251del , CM000682.2:g.36904249_36904251del	GRCh38
NC_000020.10:g.35532652_35532654del , CM000682.1:g.35532652_35532654del	GRCh37
NC_000020.9:g.34966066_34966068del	NCBI36
NG_017059.1:g.52597_52599del , LRG_281:g.52597_52599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.1271-5703_1271-5701del	ENSP00000494354.2:n.1271-5703_1271-5701del
ENST00000644250.2:c.1413_1415del
ENST00000644688.2:n.1475_1477del
ENST00000645444.2:c.*2831_*2833del	ENSP00000495381.2:n.*2831_*2833del
ENST00000682773.1:c.1413_1415del
ENST00000683720.1:c.1451_1453del
ENST00000683766.1:c.1413_1415del
ENST00000262878.5:c.1413_1415del
ENST00000465985.2:c.34_36del
ENST00000642186.1:c.*1717_*1719del
ENST00000642246.1:c.*1092_*1094del
ENST00000643825.1:c.36_38del
ENST00000643918.1:c.1413_1415del
ENST00000644114.1:c.1197-5703_1197-5701del
ENST00000644688.1:n.726_728del
ENST00000645033.1:c.*590_*592del
ENST00000645444.1:c.3469_3471del
ENST00000646066.1:c.1203_1205del
ENST00000646673.2:c.1413_1415del
ENST00000646869.1:c.1413_1415del
ENST00000646904.1:c.*619_*621del
ENST00000647095.1:n.2611_2613del
ENST00000647163.1:c.*590_*592del
ENST00000647459.1:n.2567_2569del
ENST00000262878.4:c.1413_1415del
ENST00000465985.1:n.34_36del
NM_015474.3:c.1413_1415del , LRG_281t1:c.1413_1415del
XM_005260384.2:c.1413_1415del
XM_011528761.1:c.1413_1415del
NM_001363729.1:c.1413_1415del
NM_001363733.1:c.1413_1415del
NM_001363729.2:c.1413_1415del
NM_001363733.2:c.1413_1415del
NM_015474.4:c.1413_1415del