Linked Data
dbSNP Id:
rs1444014929
gnomAD v2:
17-48270561-TG-T
gnomAD v3:
17-50193200-TG-T
gnomAD v4:
17-50193200-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193203del , CM000679.2:g.50193203del | GRCh38 |
| NC_000017.10:g.48270564del , CM000679.1:g.48270564del | GRCh37 |
| NC_000017.9:g.45625563del | NCBI36 |
| NG_007400.1:g.13439del , LRG_1:g.13439del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1768-154del MANE Select | ENSP00000225964.6:n.1768-154del | |
| ENST00000225964.9:c.1768-154del | ENSP00000225964.5:n.1768-154del | |
| ENST00000476387.1:n.117-154del | ||
| NM_000088.3:c.1768-154del , LRG_1t1:c.1768-154del | NP_000079.2:n.1768-154del | |
| XM_005257058.3:c.1768-154del | XP_005257115.2:n.1768-154del | |
| XM_005257059.3:c.958-508del | XP_005257116.2:n.958-508del | |
| XM_011524341.1:c.1570-154del | XP_011522643.1:n.1570-154del | |
| XM_005257058.4:c.1768-154del | XP_005257115.2:n.1768-154del | |
| XM_005257059.4:c.958-508del | XP_005257116.2:n.958-508del | |
| NM_000088.4:c.1768-154del MANE Select | NP_000079.2:n.1768-154del |