Linked Data
dbSNP Id:
rs1217015051
gnomAD v3:
19-6684894-TG-T
gnomAD v4:
19-6684894-TG-T
MyVariant Identifiers:
chr19:g.6684906del (hg19)
chr19:g.6684896del (hg38)
chr19:g.6684895del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6684896del , CM000681.2:g.6684896del | GRCh38 |
| NC_000019.9:g.6684907del , CM000681.1:g.6684907del | GRCh37 |
| NC_000019.8:g.6635907del | NCBI36 |
| NG_009557.1:g.40757del , LRG_27:g.40757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2318-61del | ||
| ENST00000695653.1:c.1879-61del | ENSP00000512084.1:n.1879-61del | |
| ENST00000695654.1:c.2995-61del | ENSP00000512085.1:n.2995-61del | |
| ENST00000695690.1:n.161-61del | ||
| ENST00000695691.1:n.161-61del | ||
| ENST00000245907.11:c.3970-61del MANE Select | ENSP00000245907.4:n.3970-61del | |
| ENST00000245907.10:c.3970-61del | ENSP00000245907.4:n.3970-61del | |
| ENST00000596238.1:n.413-61del | ||
| ENST00000596548.1:c.52-61del | ENSP00000469744.1:n.52-61del | |
| ENST00000601008.1:c.241+1851del | ENSP00000471384.1:n.241+1851del | |
| NM_000064.3:c.3970-61del | NP_000055.2:n.3970-61del | |
| NM_000064.4:c.3970-61del MANE Select | NP_000055.2:n.3970-61del |