Linked Data
gnomAD v4:
2-135859172-TGTGAGCCACCGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859174_135859185del , CM000664.2:g.135859174_135859185del | GRCh38 |
| NC_000002.11:g.136616744_136616755del , CM000664.1:g.136616744_136616755del | GRCh37 |
| NC_000002.10:g.136333214_136333225del | NCBI36 |
| NG_008104.2:g.986_997del , LRG_338:g.986_997del | |
| NG_008958.1:g.22258_22269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+117_1362+128del MANE Select | ENSP00000264156.2:n.1362+117_1362+128del | |
| ENST00000264156.2:c.1362+117_1362+128del | ENSP00000264156.2:n.1362+117_1362+128del | |
| ENST00000492091.1:n.181+3423_181+3434del | ||
| NM_005915.5:c.1362+117_1362+128del | NP_005906.2:n.1362+117_1362+128del | |
| NM_005915.6:c.1362+117_1362+128del MANE Select | NP_005906.2:n.1362+117_1362+128del |