Linked Data
ClinVar Variation Id:
982454
ClinVar RCV Id:
RCV001262034
dbSNP Id:
rs1940739463
gnomAD v4:
12-51913294-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913296del , CM000674.2:g.51913296del | GRCh38 |
| NC_000012.11:g.52307080del , CM000674.1:g.52307080del | GRCh37 |
| NC_000012.10:g.50593347del | NCBI36 |
| NG_009549.1:g.10879del , LRG_543:g.10879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.301del | ENSP00000446724.2:p.His101ThrfsTer? | |
| ENST00000551576.6:c.259del | ENSP00000455848.2:p.His87ThrfsTer? | |
| ENST00000552678.2:c.259del | ENSP00000457394.2:p.His87ThrfsTer? | |
| ENST00000388922.9:c.259del MANE Select | ENSP00000373574.4:p.His87ThrfsTer? | |
| ENST00000388922.8:c.259del | ENSP00000373574.4:p.His87ThrfsTer? | |
| ENST00000419526.6:c.103+761del | ENSP00000392492.2:n.103+761del | |
| ENST00000547400.5:c.301del | ENSP00000446724.1:p.His101ThrfsTer? | |
| ENST00000550683.5:c.301del | ENSP00000447884.1:p.His101ThrfsTer? | |
| ENST00000551576.5:c.259del | ENSP00000455848.1:p.His87ThrfsTer? | |
| NM_000020.2:c.259del , LRG_543t1:c.259del | NP_000011.2:p.His87ThrfsTer? | |
| NM_001077401.1:c.259del | NP_001070869.1:p.His87ThrfsTer? | |
| XM_005269235.2:c.259del | XP_005269292.1:p.His87ThrfsTer? | |
| XM_011539008.1:c.301del | XP_011537310.1:p.His101ThrfsTer? | |
| XM_024449279.1:c.-431del | XP_024305047.1:n.-431del | |
| NM_000020.3:c.259del MANE Select | NP_000011.2:p.His87ThrfsTer? | |
| NM_001077401.2:c.259del | NP_001070869.1:p.His87ThrfsTer? |