Linked Data
ClinVar Variation Id:
225503
dbSNP Id:
rs765535147
gnomAD v2:
19-49705251-CGGAGCCCGGCTTCTGGGCACACCCTCCT-C
gnomAD v3:
19-49201994-CGGAGCCCGGCTTCTGGGCACACCCTCCT-C
gnomAD v4:
19-49201994-CGGAGCCCGGCTTCTGGGCACACCCTCCT-C
MyVariant Identifiers:
chr19:g.49705254_49705281del (hg19)
chr19:g.49705252_49705279del (hg19)
chr19:g.49201997_49202024del (hg38)
chr19:g.49201995_49202022del (hg38)
PubMed:
PMID:19726882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49201997_49202024del , CM000681.2:g.49201997_49202024del | GRCh38 |
| NC_000019.9:g.49705254_49705281del , CM000681.1:g.49705254_49705281del | GRCh37 |
| NC_000019.8:g.54397066_54397093del | NCBI36 |
| NG_027551.1:g.49239_49266del | |
| NG_027551.2:g.49239_49266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.2987_3014del MANE Select | ENSP00000252826.4:p.Glu996GlyfsTer? | |
| ENST00000252826.9:c.2987_3014del | ENSP00000252826.4:p.Glu996GlyfsTer? | |
| ENST00000427978.6:c.2552_2579del | ENSP00000407492.1:p.Glu851GlyfsTer? | |
| ENST00000595071.5:n.1951_1978del | ||
| ENST00000595519.5:c.*2397_*2424del | ENSP00000469893.1:n.*2397_*2424del | |
| ENST00000596338.5:n.3084_3111del | ||
| ENST00000598502.5:c.*2100_*2127del | ENSP00000470229.1:n.*2100_*2127del | |
| ENST00000598697.5:c.*1942_*1969del | ENSP00000468989.1:n.*1942_*1969del | |
| NM_001195227.1:c.2552_2579del | NP_001182156.1:p.Glu851GlyfsTer? | |
| NM_017636.3:c.2987_3014del | NP_060106.2:p.Glu996GlyfsTer? | |
| XM_005259017.1:c.1700_1727del | XP_005259074.1:p.Glu567GlyfsTer? | |
| XM_005259018.2:c.1379_1406del | XP_005259075.1:p.Glu460GlyfsTer? | |
| XM_011527046.1:c.2465_2492del | XP_011525348.1:p.Glu822GlyfsTer? | |
| NM_001321281.1:c.2642_2669del | NP_001308210.1:p.Glu881GlyfsTer? | |
| NM_001321282.1:c.1379_1406del | NP_001308211.1:p.Glu460GlyfsTer? | |
| NM_001321283.1:c.2465_2492del | NP_001308212.1:p.Glu822GlyfsTer? | |
| NM_001321285.1:c.1925_1952del | NP_001308214.1:p.Glu642GlyfsTer? | |
| XM_024451557.1:c.1013_1040del | XP_024307325.1:p.Glu338GlyfsTer? | |
| NM_017636.4:c.2987_3014del MANE Select | NP_060106.2:p.Glu996GlyfsTer? | |
| NM_001195227.2:c.2552_2579del | NP_001182156.1:p.Glu851GlyfsTer? | |
| NM_001321281.2:c.2642_2669del | NP_001308210.1:p.Glu881GlyfsTer? | |
| NM_001321282.2:c.1379_1406del | NP_001308211.1:p.Glu460GlyfsTer? | |
| NM_001321283.2:c.2465_2492del | NP_001308212.1:p.Glu822GlyfsTer? | |
| NM_001321285.2:c.1925_1952del | NP_001308214.1:p.Glu642GlyfsTer? |