Linked Data
ClinVar Variation Id:
197125
dbSNP Id:
rs794727619
gnomAD v2:
12-103271323-AG-A
gnomAD v3:
12-102877545-AG-A
gnomAD v4:
12-102877545-AG-A
MyVariant Identifiers:
chr12:g.103271324del (hg19)
chr12:g.103271324delG (hg19)
chr12:g.102877546del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877548del , CM000674.2:g.102877548del | GRCh38 |
| NC_000012.11:g.103271326del , CM000674.1:g.103271326del | GRCh37 |
| NC_000012.10:g.101795456del | NCBI36 |
| NG_008690.1:g.45057del | |
| NG_008690.2:g.85865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.357del MANE Select | ENSP00000448059.1:p.Trp120GlyfsTer? | |
| ENST00000307000.7:c.342del | ENSP00000303500.2:p.Trp115GlyfsTer? | |
| ENST00000549111.5:n.453del | ||
| ENST00000550978.6:c.341del | ||
| ENST00000551337.5:c.357del | ENSP00000447620.1:p.Trp120GlyfsTer? | |
| ENST00000551988.5:n.446del | ||
| ENST00000553106.5:c.357del | ENSP00000448059.1:p.Trp120GlyfsTer? | |
| NM_000277.1:c.357del | NP_000268.1:p.Trp120GlyfsTer? | |
| XM_011538422.1:c.357del | XP_011536724.1:p.Trp120GlyfsTer? | |
| NM_000277.2:c.357del | NP_000268.1:p.Trp120GlyfsTer? | |
| NM_001354304.1:c.357del | NP_001341233.1:p.Trp120GlyfsTer? | |
| XM_017019370.2:c.357del | XP_016874859.1:p.Trp120GlyfsTer? | |
| NM_000277.3:c.357del MANE Select | NP_000268.1:p.Trp120GlyfsTer? | |
| NM_001354304.2:c.357del | NP_001341233.1:p.Trp120GlyfsTer? |