Linked Data
dbSNP Id:
rs756187354
ExAC:
1:197008516 TTAAGGG / T
gnomAD v2:
1-197008516-TTAAGGG-T
gnomAD v4:
1-197039386-TTAAGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039388_197039393del , CM000663.2:g.197039388_197039393del | GRCh38 |
| NC_000001.10:g.197008518_197008523del , CM000663.1:g.197008518_197008523del | GRCh37 |
| NC_000001.9:g.195275141_195275146del | NCBI36 |
| NG_012065.1:g.32876_32881del , LRG_550:g.32876_32881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.1972_1977del MANE Select | ENSP00000356382.2:p.Pro658_Leu659del | |
| ENST00000649282.1:c.727_732del | ENSP00000497116.1:p.Pro243_Leu244del | |
| ENST00000367412.1:c.1972_1977del | ENSP00000356382.1:p.Pro658_Leu659del | |
| NM_001994.2:c.1972_1977del , LRG_550t1:c.1972_1977del | NP_001985.2:p.Pro658_Leu659del | |
| XM_011509283.2:c.*907_*912del | XP_011507585.1:n.*907_*912del | |
| XM_011509284.2:c.*907_*912del | XP_011507586.1:n.*907_*912del | |
| XM_011509286.2:c.*907_*912del | XP_011507588.1:n.*907_*912del | |
| NM_001994.3:c.1972_1977del MANE Select | NP_001985.2:p.Pro658_Leu659del |