Linked Data
dbSNP Id:
rs1057516702
MyVariant Identifiers:
chr1:g.21900223_21900224del (hg19)
chr1:g.21900220_21900221del (hg19)
chr1:g.21573730_21573731del (hg38)
chr1:g.21573727_21573728del (hg38)
PubMed:
PMID:15694177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21573730_21573731del , CM000663.2:g.21573730_21573731del | GRCh38 |
| NC_000001.10:g.21900223_21900224del , CM000663.1:g.21900223_21900224del | GRCh37 |
| NC_000001.9:g.21772810_21772811del | NCBI36 |
| NG_008940.1:g.69366_69367del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.928_929del MANE Select | ENSP00000363973.3:p.Ser310ArgfsTer27 | |
| ENST00000374830.2:c.73-2003_73-2002del | ||
| ENST00000374832.5:c.928_929del | ENSP00000363965.1:p.Ser310ArgfsTer27 | |
| ENST00000374840.7:c.928_929del | ENSP00000363973.3:p.Ser310ArgfsTer27 | |
| ENST00000539907.5:c.697_698del | ENSP00000437674.1:p.Ser233ArgfsTer27 | |
| ENST00000540617.5:c.763_764del | ENSP00000442672.1:p.Ser255ArgfsTer27 | |
| NM_000478.4:c.928_929del | NP_000469.3:p.Ser310ArgfsTer27 | |
| NM_001127501.2:c.763_764del | NP_001120973.2:p.Ser255ArgfsTer27 | |
| NM_001177520.1:c.697_698del | NP_001170991.1:p.Ser233ArgfsTer27 | |
| XM_005245818.1:c.928_929del | XP_005245875.1:p.Ser310ArgfsTer27 | |
| XM_005245820.2:c.928_929del | XP_005245877.1:p.Ser310ArgfsTer? | |
| XM_006710546.1:c.928_929del | XP_006710609.1:p.Ser310ArgfsTer27 | |
| NM_000478.5:c.928_929del | NP_000469.3:p.Ser310ArgfsTer27 | |
| NM_001127501.3:c.763_764del | NP_001120973.2:p.Ser255ArgfsTer27 | |
| NM_001177520.2:c.697_698del | NP_001170991.1:p.Ser233ArgfsTer27 | |
| XM_006710546.3:c.928_929del | XP_006710609.1:p.Ser310ArgfsTer27 | |
| XM_017000903.1:c.772_773del | XP_016856392.1:p.Ser258ArgfsTer27 | |
| NM_000478.6:c.928_929del MANE Select | NP_000469.3:p.Ser310ArgfsTer27 | |
| NM_001127501.4:c.763_764del | NP_001120973.2:p.Ser255ArgfsTer27 | |
| NM_001177520.3:c.697_698del | NP_001170991.1:p.Ser233ArgfsTer27 | |
| NM_001369803.2:c.928_929del | NP_001356732.1:p.Ser310ArgfsTer27 | |
| NM_001369804.2:c.928_929del | NP_001356733.1:p.Ser310ArgfsTer27 | |
| NM_001369805.2:c.928_929del | NP_001356734.1:p.Ser310ArgfsTer27 |