Linked Data
dbSNP Id:
rs768004340
ExAC:
19:18898259 CCCGCCG / C
gnomAD v2:
19-18898259-CCCGCCG-C
gnomAD v3:
19-18787450-CCCGCCG-C
gnomAD v4:
19-18787450-CCCGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787453_18787458del , CM000681.2:g.18787453_18787458del | GRCh38 |
| NC_000019.9:g.18898262_18898267del , CM000681.1:g.18898262_18898267del | GRCh37 |
| NC_000019.8:g.18759262_18759267del | NCBI36 |
| NG_007070.1:g.8850_8855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1135+35_1135+40del MANE Select | ENSP00000222271.2:n.1135+35_1135+40del | |
| ENST00000222271.6:c.1135+35_1135+40del | ENSP00000222271.2:n.1135+35_1135+40del | |
| ENST00000425807.1:c.976+35_976+40del | ENSP00000403792.1:n.976+35_976+40del | |
| ENST00000542601.6:c.1036+35_1036+40del | ENSP00000439156.2:n.1036+35_1036+40del | |
| NM_000095.2:c.1135+35_1135+40del | NP_000086.2:n.1135+35_1135+40del | |
| NM_000095.3:c.1135+35_1135+40del MANE Select | NP_000086.2:n.1135+35_1135+40del |