Linked Data
dbSNP Id:
rs1389544096
gnomAD v2:
2-163138812-TA-T
gnomAD v3:
2-162282302-TA-T
gnomAD v4:
2-162282302-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282303del , CM000664.2:g.162282303del | GRCh38 |
| NC_000002.11:g.163138813del , CM000664.1:g.163138813del | GRCh37 |
| NC_000002.10:g.162847059del | NCBI36 |
| NG_011495.1:g.41227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*903+63del | ENSP00000513228.1:n.*903+63del | |
| ENST00000648433.1:c.1306+63del | ENSP00000496816.1:n.1306+63del | |
| ENST00000649554.1:n.916+63del | ||
| ENST00000649979.2:c.1306+63del MANE Select | ENSP00000497271.1:n.1306+63del | |
| ENST00000679938.1:c.994+63del | ENSP00000505518.1:n.994+63del | |
| ENST00000263642.2:c.1306+63del | ENSP00000263642.2:n.1306+63del | |
| NM_022168.3:c.1306+63del | NP_071451.2:n.1306+63del | |
| XM_011511628.1:c.589+63del | XP_011509930.1:n.589+63del | |
| XM_011511629.1:c.1306+63del | XP_011509931.1:n.1306+63del | |
| NM_022168.4:c.1306+63del MANE Select | NP_071451.2:n.1306+63del |