Linked Data
ClinVar Variation Id:
30420
ClinVar RCV Id:
RCV000023373
dbSNP Id:
rs387906338
ExAC:
1:63879807 TTAA / T
gnomAD v2:
1-63879807-TTAA-T
gnomAD v3:
1-63414136-TTAA-T
gnomAD v4:
1-63414136-TTAA-T
MyVariant Identifiers:
chr1:g.63879812_63879814del (hg19)
chr1:g.63879808_63879810del (hg19)
chr1:g.63414141_63414143del (hg38)
chr1:g.63414137_63414139del (hg38)
PubMed:
PMID:10924277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63414141_63414143del , CM000663.2:g.63414141_63414143del | GRCh38 |
| NC_000001.10:g.63879812_63879814del , CM000663.1:g.63879812_63879814del | GRCh37 |
| NC_000001.9:g.63652400_63652402del | NCBI36 |
| NG_008925.2:g.51552_51554del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263440.6:c.897_899del MANE Select | ENSP00000263440.5:p.Ile299del | |
| ENST00000603108.6:c.897_899del | ENSP00000473934.2:p.Ile299del | |
| ENST00000647818.1:c.*203_*205del | ENSP00000497667.1:n.*203_*205del | |
| ENST00000648964.1:c.*626_*628del | ENSP00000497828.1:n.*626_*628del | |
| ENST00000649570.1:c.*319_*321del | ENSP00000497742.1:n.*319_*321del | |
| ENST00000650494.1:c.*199_*201del | ENSP00000497170.1:n.*199_*201del | |
| ENST00000263440.4:c.903_905del | ENSP00000263440.4:p.Ile301del | |
| ENST00000371108.8:c.897_899del | ENSP00000360149.4:p.Ile299del | |
| ENST00000465969.5:n.486_488del | ||
| ENST00000603108.5:c.827-1732_827-1730del | ENSP00000473934.1:n.827-1732_827-1730del | |
| NM_013339.3:c.897_899del | NP_037471.2:p.Ile299del | |
| NM_013339.4:c.897_899del MANE Select | NP_037471.2:p.Ile299del |