Linked Data
dbSNP Id:
rs1436773193
gnomAD v2:
9-133308720-CTG-C
gnomAD v3:
9-130433333-CTG-C
gnomAD v4:
9-130433333-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433336_130433337del , CM000671.2:g.130433336_130433337del | GRCh38 |
| NC_000009.11:g.133308723_133308724del , CM000671.1:g.133308723_133308724del | GRCh37 |
| NC_000009.10:g.132298544_132298545del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14838-12_14838-11del | ENSP00000485357.2:n.14838-12_14838-11del | |
| ENST00000683500.2:c.14895-12_14895-11del MANE Select | ENSP00000508292.2:n.14895-12_14895-11del | |
| ENST00000623487.1:n.3229_3230del | ||
| ENST00000624552.3:c.14835-12_14835-11del | ENSP00000485357.1:n.14835-12_14835-11del | |
| NM_001291815.1:c.14895-12_14895-11del | NP_001278744.1:n.14895-12_14895-11del | |
| XM_011518465.1:c.14772-12_14772-11del | XP_011516767.1:n.14772-12_14772-11del | |
| XM_011518466.1:c.14763-12_14763-11del | XP_011516768.1:n.14763-12_14763-11del | |
| XM_011518467.1:c.14718-12_14718-11del | XP_011516769.1:n.14718-12_14718-11del | |
| NM_001291815.2:c.14895-12_14895-11del MANE Select | NP_001278744.1:n.14895-12_14895-11del | |
| XM_011518465.2:c.14772-12_14772-11del | XP_011516767.1:n.14772-12_14772-11del | |
| XM_011518466.2:c.14763-12_14763-11del | XP_011516768.1:n.14763-12_14763-11del | |
| XM_011518467.2:c.14718-12_14718-11del | XP_011516769.1:n.14718-12_14718-11del | |
| XM_017014585.1:c.11676-12_11676-11del | XP_016870074.1:n.11676-12_11676-11del | |
| XM_017014586.1:c.7473-12_7473-11del | XP_016870075.1:n.7473-12_7473-11del | |
| XR_001746957.1:n.92+286_92+287del | ||
| XR_001746958.1:n.92+286_92+287del |