Linked Data
dbSNP Id:
rs1203589269
gnomAD v2:
2-141721021-TATATATA-T
gnomAD v3:
2-140963452-TATATATA-T
gnomAD v4:
2-140963452-TATATATA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963453_140963459del , CM000664.2:g.140963453_140963459del | GRCh38 |
| NC_000002.11:g.141721022_141721028del , CM000664.1:g.141721022_141721028del | GRCh37 |
| NC_000002.10:g.141437492_141437498del | NCBI36 |
| NG_051023.1:g.1174005_1174011del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11519_2888-11513del MANE Select | ENSP00000374135.3:n.2888-11519_2888-11513del | |
| ENST00000389484.7:c.2888-11519_2888-11513del | ENSP00000374135.3:n.2888-11519_2888-11513del | |
| ENST00000434794.1:c.323-11519_323-11513del | ENSP00000413239.1:n.323-11519_323-11513del | |
| ENST00000618808.4:c.2546-11519_2546-11513del | ENSP00000478868.1:n.2546-11519_2546-11513del | |
| NM_018557.2:c.2888-11519_2888-11513del | NP_061027.2:n.2888-11519_2888-11513del | |
| XM_011511352.1:c.2999-11519_2999-11513del | XP_011509654.1:n.2999-11519_2999-11513del | |
| XM_017004341.1:c.2498-11519_2498-11513del | XP_016859830.1:n.2498-11519_2498-11513del | |
| XR_001738778.1:n.4622-11519_4622-11513del | ||
| NM_018557.3:c.2888-11519_2888-11513del MANE Select | NP_061027.2:n.2888-11519_2888-11513del |