Linked Data
ClinVar Variation Id:
370963
ClinVar RCV Id:
RCV000410473
dbSNP Id:
rs1057516899
gnomAD v4:
19-12896230-CTGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896234_12896237del , CM000681.2:g.12896234_12896237del | GRCh38 |
| NC_000019.9:g.13007048_13007051del , CM000681.1:g.13007048_13007051del | GRCh37 |
| NC_000019.8:g.12868048_12868051del | NCBI36 |
| NG_009292.1:g.10075_10078del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222214.10:c.665_668del MANE Select | ENSP00000222214.4:p.Phe222Ter | |
| ENST00000222214.9:c.665_668del | ENSP00000222214.4:p.Phe222Ter | |
| ENST00000421816.6:n.643_646del | ||
| ENST00000585420.5:n.1001-6_1001-3del | ||
| ENST00000590530.5:c.*105_*108del | ENSP00000468452.1:n.*105_*108del | |
| ENST00000591043.1:n.701_704del | ||
| ENST00000591470.5:c.665_668del | ENSP00000466845.1:p.Phe222Ter | |
| NM_000159.3:c.665_668del | NP_000150.1:p.Phe222Ter | |
| NM_013976.3:c.665_668del | NP_039663.1:p.Phe222Ter | |
| NR_102316.1:n.828_831del | ||
| NR_102317.1:n.1052-6_1052-3del | ||
| XM_006722721.2:c.665_668del | XP_006722784.1:p.Phe222Ter | |
| XM_011527899.1:c.665_668del | XP_011526201.1:p.Phe222Ter | |
| XM_011527900.1:c.665_668del | XP_011526202.1:p.Phe222Ter | |
| XM_011527899.2:c.665_668del | XP_011526201.1:p.Phe222Ter | |
| XM_011527900.2:c.665_668del | XP_011526202.1:p.Phe222Ter | |
| XM_017026580.1:c.665_668del | XP_016882069.1:p.Phe222Ter | |
| NM_000159.4:c.665_668del MANE Select | NP_000150.1:p.Phe222Ter | |
| NM_013976.4:c.665_668del | NP_039663.1:p.Phe222Ter | |
| NM_013976.5:c.665_668del | NP_039663.1:p.Phe222Ter |