Linked Data
dbSNP Id:
rs1726844099
gnomAD v3:
4-102598563-ATGTGGTATAAC-A
gnomAD v4:
4-102598563-ATGTGGTATAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102598564_102598574del , CM000666.2:g.102598564_102598574del | GRCh38 |
| NC_000004.11:g.103519721_103519731del , CM000666.1:g.103519721_103519731del | GRCh37 |
| NC_000004.10:g.103738759_103738769del | NCBI36 |
| NG_050628.1:g.102236_102246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1661+903_1661+913del | ENSP00000426147.2:n.1661+903_1661+913del | |
| ENST00000509165.2:c.1637+903_1637+913del | ENSP00000423877.2:n.1637+903_1637+913del | |
| ENST00000697794.1:c.*1278+903_*1278+913del | ENSP00000513443.1:n.*1278+903_*1278+913del | |
| ENST00000697799.1:n.1134+903_1134+913del | ||
| ENST00000698233.1:n.1366+903_1366+913del | ||
| ENST00000226574.9:c.1637+903_1637+913del MANE Select | ENSP00000226574.4:n.1637+903_1637+913del | |
| ENST00000652569.1:c.1613+903_1613+913del | ||
| ENST00000652619.1:c.*164+903_*164+913del | ENSP00000499031.1:n.*164+903_*164+913del | |
| ENST00000226574.8:c.1637+903_1637+913del | ENSP00000226574.4:n.1637+903_1637+913del | |
| ENST00000394820.8:c.1634+903_1634+913del | ENSP00000378297.4:n.1634+903_1634+913del | |
| ENST00000505458.5:c.1634+903_1634+913del | ENSP00000424790.1:n.1634+903_1634+913del | |
| ENST00000600343.5:c.1094+903_1094+913del | ENSP00000469340.1:n.1094+903_1094+913del | |
| NM_001165412.1:c.1634+903_1634+913del | NP_001158884.1:n.1634+903_1634+913del | |
| NM_003998.3:c.1637+903_1637+913del | NP_003989.2:n.1637+903_1637+913del | |
| XM_011532006.1:c.1658+903_1658+913del | XP_011530308.1:n.1658+903_1658+913del | |
| XM_011532007.1:c.1634+903_1634+913del | XP_011530309.1:n.1634+903_1634+913del | |
| XM_011532008.1:c.1478+903_1478+913del | XP_011530310.1:n.1478+903_1478+913del | |
| XM_011532009.1:c.1241+903_1241+913del | XP_011530311.1:n.1241+903_1241+913del | |
| XR_939027.1:n.3753_3763del | ||
| NM_001319226.1:c.1634+903_1634+913del | NP_001306155.1:n.1634+903_1634+913del | |
| XM_011532006.2:c.1658+903_1658+913del | XP_011530308.1:n.1658+903_1658+913del | |
| XM_024454067.1:c.1661+903_1661+913del | XP_024309835.1:n.1661+903_1661+913del | |
| XM_024454068.1:c.1637+903_1637+913del | XP_024309836.1:n.1637+903_1637+913del | |
| XM_024454069.1:c.1502+903_1502+913del | XP_024309837.1:n.1502+903_1502+913del | |
| NM_003998.4:c.1637+903_1637+913del MANE Select | NP_003989.2:n.1637+903_1637+913del | |
| NM_001165412.2:c.1634+903_1634+913del | NP_001158884.1:n.1634+903_1634+913del | |
| NM_001319226.2:c.1634+903_1634+913del | NP_001306155.1:n.1634+903_1634+913del | |
| NM_001382625.1:c.1637+903_1637+913del | NP_001369554.1:n.1637+903_1637+913del | |
| NM_001382626.1:c.1637+903_1637+913del | NP_001369555.1:n.1637+903_1637+913del | |
| NM_001382627.1:c.1634+903_1634+913del | NP_001369556.1:n.1634+903_1634+913del | |
| NM_001382628.1:c.1595+903_1595+913del | NP_001369557.1:n.1595+903_1595+913del |