Linked Data
dbSNP Id:
rs1967971258
gnomAD v3:
19-6713750-CACTCCCAGCCCCCA-C
gnomAD v4:
19-6713750-CACTCCCAGCCCCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713751_6713764del , CM000681.2:g.6713751_6713764del | GRCh38 |
| NC_000019.9:g.6713762_6713775del , CM000681.1:g.6713762_6713775del | GRCh37 |
| NC_000019.8:g.6664762_6664775del | NCBI36 |
| NG_009557.1:g.11888_11901del , LRG_27:g.11888_11901del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+228_651-242del | ENSP00000512083.1:n.650+228_651-242del | |
| ENST00000245907.11:c.773+228_774-242del MANE Select | ENSP00000245907.4:n.773+228_774-242del | |
| ENST00000245907.10:c.773+228_774-242del | ENSP00000245907.4:n.773+228_774-242del | |
| ENST00000595577.1:n.277+228_278-242del | ||
| ENST00000597442.5:n.23+2_23+15del | ||
| NM_000064.3:c.773+228_774-242del | NP_000055.2:n.773+228_774-242del | |
| NM_000064.4:c.773+228_774-242del MANE Select | NP_000055.2:n.773+228_774-242del |