Linked Data
gnomAD v4:
5-135031200-AGCTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031202_135031206del , CM000667.2:g.135031202_135031206del | GRCh38 |
| NC_000005.9:g.134366892_134366896del , CM000667.1:g.134366892_134366896del | GRCh37 |
| NC_000005.8:g.134394791_134394795del | NCBI36 |
| NG_012114.1:g.8070_8074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.402+71_402+75del MANE Select | ENSP00000265340.6:n.402+71_402+75del | |
| ENST00000265340.11:c.402+71_402+75del | ENSP00000265340.6:n.402+71_402+75del | |
| ENST00000503586.1:c.524+71_524+75del | ||
| ENST00000504936.1:n.735+71_735+75del | ||
| ENST00000506438.5:c.402+71_402+75del | ENSP00000427542.1:n.402+71_402+75del | |
| NM_002653.4:c.402+71_402+75del | NP_002644.4:n.402+71_402+75del | |
| NM_002653.5:c.402+71_402+75del MANE Select | NP_002644.4:n.402+71_402+75del |