Linked Data
ClinVar Variation Id:
1075552
ClinVar RCV Id:
RCV001389180
dbSNP Id:
rs1569009071
gnomAD v2:
19-1401411-GC-G
gnomAD v4:
19-1401412-GC-G
MyVariant Identifiers:
chr19:g.1401412del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401418del , CM000681.2:g.1401418del | GRCh38 |
| NC_000019.9:g.1401417del , CM000681.1:g.1401417del | GRCh37 |
| NC_000019.8:g.1352417del | NCBI36 |
| NG_009785.1:g.5141del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.64del MANE Select | ENSP00000252288.1:p.Ala22ArgfsTer20 | |
| ENST00000447102.8:c.64del | ENSP00000403536.2:p.Ala22ArgfsTer20 | |
| ENST00000640762.1:c.64del | ENSP00000492031.1:p.Ala22ArgfsTer? | |
| ENST00000252288.6:c.64del | ENSP00000252288.1:p.Ala22ArgfsTer20 | |
| ENST00000447102.7:c.64del | ENSP00000403536.2:p.Ala22ArgfsTer20 | |
| NM_000156.5:c.64del | NP_000147.1:p.Ala22ArgfsTer20 | |
| NM_138924.2:c.64del | NP_620279.1:p.Ala22ArgfsTer20 | |
| NM_000156.6:c.64del MANE Select | NP_000147.1:p.Ala22ArgfsTer20 | |
| NM_138924.3:c.64del | NP_620279.1:p.Ala22ArgfsTer20 |