Linked Data
gnomAD v4:
3-129061656-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061660del , CM000665.2:g.129061660del | GRCh38 |
| NC_000003.11:g.128780503del , CM000665.1:g.128780503del | GRCh37 |
| NC_000003.10:g.130263193del | NCBI36 |
| NG_008715.1:g.5859del , LRG_477:g.5859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-13+41del MANE Select | ENSP00000303942.4:n.-13+41del | |
| ENST00000307395.4:c.-13+41del | ENSP00000303942.4:n.-13+41del | |
| NM_000174.4:c.-13+41del , LRG_477t1:c.-13+41del | NP_000165.1:n.-13+41del | |
| XM_005247374.3:c.-13+41del | XP_005247431.1:n.-13+41del | |
| XM_011512701.1:c.-13+41del | XP_011511003.1:n.-13+41del | |
| XM_011512702.1:c.-12-68del | XP_011511004.1:n.-12-68del | |
| NM_000174.5:c.-13+41del MANE Select | NP_000165.1:n.-13+41del |