Linked Data
dbSNP Id:
rs1004861767
MyVariant Identifiers:
chr19:g.12917599_12917600insCGAT (hg19)
chr19:g.12806785_12806786insCGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12806785_12806786insCGAT , CM000681.2:g.12806785_12806786insCGAT | GRCh38 |
| NC_000019.9:g.12917599_12917600insCGAT , CM000681.1:g.12917599_12917600insCGAT | GRCh37 |
| NC_000019.8:g.12778599_12778600insCGAT | NCBI36 |
| NG_012662.1:g.5172_5173insCGAT , LRG_278:g.5172_5173insCGAT | |
| NG_029901.1:g.95_96insATCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.112_113insCGAT (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg38ThrfsTer? | |
| ENST00000590121.2:c.109_110insCGAT (RNASEH2A) | ENSP00000495087.1:p.Arg37ThrfsTer? | |
| ENST00000590279.2:n.194_195insCGAT (RNASEH2A) | ||
| ENST00000593017.2:n.102_103insCGAT (RNASEH2A) | ||
| ENST00000639767.2:c.*7-223_*7-222insCGAT (THSD8) | ENSP00000491410.2:n.*7-223_*7-222insCGAT | |
| ENST00000643364.1:n.796_797insCGAT (THSD8) | ||
| ENST00000646769.1:c.112_113insCGAT (RNASEH2A) | ENSP00000495175.1:p.Arg38ThrfsTer? | |
| ENST00000221486.4:c.112_113insCGAT (RNASEH2A) | ENSP00000221486.3:p.Arg38ThrfsTer? | |
| ENST00000589765.1:n.41+18392_41+18393insATCG (HOOK2) | ||
| ENST00000590121.1:n.109_110insCGAT (RNASEH2A) | ||
| ENST00000590279.1:n.102_103insCGAT (RNASEH2A) | ||
| ENST00000593017.1:n.194_195insCGAT (RNASEH2A) | ||
| NM_006397.2:c.112_113insCGAT , LRG_278t1:c.112_113insCGAT (RNASEH2A) | NP_006388.2:p.Arg38ThrfsTer? | |
| XM_006722619.2:c.-5-223_-5-222insCGAT (RNASEH2A) | XP_006722682.1:n.-5-223_-5-222insCGAT | |
| NM_006397.3:c.112_113insCGAT (RNASEH2A) MANE Select | NP_006388.2:p.Arg38ThrfsTer? |