Linked Data
dbSNP Id:
rs1730836600
gnomAD v3:
4-6300453-AGGGAGGGCTCACAGGGACCGCGAGCATG-A
gnomAD v4:
4-6300453-AGGGAGGGCTCACAGGGACCGCGAGCATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300462_6300489del , CM000666.2:g.6300462_6300489del | GRCh38 |
| NC_000004.11:g.6302189_6302216del , CM000666.1:g.6302189_6302216del | GRCh37 |
| NC_000004.10:g.6353090_6353117del | NCBI36 |
| NG_011700.1:g.35613_35640del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.898-195_898-168del | ENSP00000507852.1:n.898-195_898-168del | |
| ENST00000683395.1:c.839-195_839-168del | ||
| ENST00000684087.1:c.862-195_862-168del | ENSP00000506978.1:n.862-195_862-168del | |
| ENST00000506362.2:c.613-195_613-168del | ENSP00000424103.2:n.613-195_613-168del | |
| ENST00000673642.1:c.661-335_661-308del | ENSP00000501242.1:n.661-335_661-308del | |
| ENST00000673991.1:c.898-195_898-168del | ENSP00000501033.1:n.898-195_898-168del | |
| ENST00000226760.5:c.862-195_862-168del MANE Select | ENSP00000226760.1:n.862-195_862-168del | |
| ENST00000503569.5:c.862-195_862-168del | ENSP00000423337.1:n.862-195_862-168del | |
| ENST00000506362.1:c.495-195_495-168del | ||
| ENST00000507765.1:n.1047-195_1047-168del | ||
| ENST00000513395.1:n.420-195_420-168del | ||
| NM_001145853.1:c.862-195_862-168del | NP_001139325.1:n.862-195_862-168del | |
| NM_006005.3:c.862-195_862-168del MANE Select | NP_005996.2:n.862-195_862-168del | |
| XM_017008586.1:c.871-195_871-168del | XP_016864075.1:n.871-195_871-168del |