Linked Data
dbSNP Id:
rs757196143
ExAC:
16:23428415 GCA / G
gnomAD v2:
16-23428415-GCA-G
gnomAD v4:
16-23417094-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417099_23417100del , CM000678.2:g.23417099_23417100del | GRCh38 |
| NC_000016.9:g.23428420_23428421del , CM000678.1:g.23428420_23428421del | GRCh37 |
| NC_000016.8:g.23335921_23335922del | NCBI36 |
| NG_021287.1:g.41096_41097del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1163_1164del MANE Select | ENSP00000305442.5:p.Val388AlafsTer19 | |
| ENST00000307149.9:c.1163_1164del | ENSP00000305442.5:p.Val388AlafsTer19 | |
| ENST00000567821.1:n.198_199del | ||
| NM_153603.3:c.1163_1164del | NP_705831.1:p.Val388AlafsTer19 | |
| XR_429680.1:n.1379_1380del | ||
| XM_017023870.1:c.968_969del | XP_016879359.1:p.Val323AlafsTer19 | |
| XR_002957852.1:n.1384_1385del | ||
| XR_429680.2:n.1384_1385del | ||
| NM_153603.4:c.1163_1164del MANE Select | NP_705831.1:p.Val388AlafsTer19 |