Linked Data
dbSNP Id:
rs1491272894
ExAC:
9:75420461 TTA / T
gnomAD v2:
9-75420461-TTA-T
gnomAD v4:
9-72805545-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72805546_72805547del , CM000671.2:g.72805546_72805547del | GRCh38 |
| NC_000009.11:g.75420462_75420463del , CM000671.1:g.75420462_75420463del | GRCh37 |
| NC_000009.10:g.74610282_74610283del | NCBI36 |
| NG_008213.1:g.288746_288747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1695+36_1695+37del MANE Select | ENSP00000297784.6:n.1695+36_1695+37del | |
| ENST00000644967.1:c.1257+36_1257+37del | ENSP00000496159.1:n.1257+36_1257+37del | |
| ENST00000645053.1:c.1257+36_1257+37del | ENSP00000493838.1:n.1257+36_1257+37del | |
| ENST00000645208.2:c.1695+36_1695+37del | ENSP00000494684.1:n.1695+36_1695+37del | |
| ENST00000645773.1:c.1569+36_1569+37del | ENSP00000493698.1:n.1569+36_1569+37del | |
| ENST00000645787.1:n.1838+36_1838+37del | ||
| ENST00000646619.1:c.1257+36_1257+37del | ENSP00000493726.1:n.1257+36_1257+37del | |
| ENST00000651183.1:c.1257+36_1257+37del | ENSP00000498723.1:n.1257+36_1257+37del | |
| ENST00000297784.9:c.1695+36_1695+37del | ENSP00000297784.5:n.1695+36_1695+37del | |
| ENST00000340019.4:c.1695+36_1695+37del | ENSP00000341433.3:n.1695+36_1695+37del | |
| ENST00000486417.5:n.319+36_319+37del | ||
| NM_138691.2:c.1695+36_1695+37del | NP_619636.2:n.1695+36_1695+37del | |
| XM_011518213.1:c.2283+36_2283+37del | XP_011516515.1:n.2283+36_2283+37del | |
| XM_017014256.1:c.1698+36_1698+37del | XP_016869745.1:n.1698+36_1698+37del | |
| NM_138691.3:c.1695+36_1695+37del MANE Select | NP_619636.2:n.1695+36_1695+37del |