Linked Data
gnomAD v2:
4-120241806-T-TAA
gnomAD v4:
4-119320651-T-TAA
MyVariant Identifiers:
chr4:g.120241809_120241810insAA (hg19)
chr4:g.119320654_119320655insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320661_119320662dup , CM000666.2:g.119320661_119320662dup | GRCh38 |
| NC_000004.11:g.120241816_120241817dup , CM000666.1:g.120241816_120241817dup | GRCh37 |
| NC_000004.10:g.120461264_120461265dup | NCBI36 |
| NG_011444.1:g.6509_6510dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+17_240+18dup MANE Select | ENSP00000274024.3:n.240+17_240+18dup | |
| ENST00000274024.3:c.240+17_240+18dup | ENSP00000274024.3:n.240+17_240+18dup | |
| NM_000134.3:c.240+17_240+18dup | NP_000125.2:n.240+17_240+18dup | |
| NM_000134.4:c.240+17_240+18dup MANE Select | NP_000125.2:n.240+17_240+18dup |