Linked Data
ClinVar Variation Id:
939992
dbSNP Id:
rs1443859067
gnomAD v2:
19-1401384-T-TCCGTG
gnomAD v4:
19-1401385-T-TCCGTG
MyVariant Identifiers:
chr19:g.1401384_1401385insCCGTG (hg19)
chr19:g.1401385_1401386insCCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401388_1401389insTGCCG , CM000681.2:g.1401388_1401389insTGCCG | GRCh38 |
| NC_000019.9:g.1401387_1401388insTGCCG , CM000681.1:g.1401387_1401388insTGCCG | GRCh37 |
| NC_000019.8:g.1352387_1352388insTGCCG | NCBI36 |
| NG_009785.1:g.5168_5169insCACGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.91_92insCACGG MANE Select | ENSP00000252288.1:p.Asp31AlafsTer13 | |
| ENST00000447102.8:c.91_92insCACGG | ENSP00000403536.2:p.Asp31AlafsTer13 | |
| ENST00000640762.1:c.91_92insCACGG | ENSP00000492031.1:p.Asp31AlafsTer? | |
| ENST00000252288.6:c.91_92insCACGG | ENSP00000252288.1:p.Asp31AlafsTer13 | |
| ENST00000447102.7:c.91_92insCACGG | ENSP00000403536.2:p.Asp31AlafsTer13 | |
| NM_000156.5:c.91_92insCACGG | NP_000147.1:p.Asp31AlafsTer13 | |
| NM_138924.2:c.91_92insCACGG | NP_620279.1:p.Asp31AlafsTer13 | |
| NM_000156.6:c.91_92insCACGG MANE Select | NP_000147.1:p.Asp31AlafsTer13 | |
| NM_138924.3:c.91_92insCACGG | NP_620279.1:p.Asp31AlafsTer13 |