Linked Data
dbSNP Id:
rs1204769514
gnomAD v2:
1-173873032-T-TAACA
gnomAD v4:
1-173903894-T-TAACA
MyVariant Identifiers:
chr1:g.173873032_173873033insAACA (hg19)
chr1:g.173903894_173903895insAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903895_173903898dup , CM000663.2:g.173903895_173903898dup | GRCh38 |
| NC_000001.10:g.173873033_173873036dup , CM000663.1:g.173873033_173873036dup | GRCh37 |
| NC_000001.9:g.172139656_172139659dup | NCBI36 |
| NG_012462.1:g.18481_18484dup , LRG_577:g.18481_18484dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1386_1389dup MANE Select | ENSP00000356671.3:p.Lys464CysfsTer2 | |
| ENST00000367698.3:c.1386_1389dup | ENSP00000356671.3:p.Lys464CysfsTer2 | |
| ENST00000617423.4:c.771_774dup | ENSP00000478688.1:p.Lys259CysfsTer2 | |
| NM_000488.3:c.1386_1389dup , LRG_577t1:c.1386_1389dup | NP_000479.1:p.Lys464CysfsTer2 | |
| XM_005245198.2:c.1242_1245dup | XP_005245255.1:p.Lys416CysfsTer2 | |
| NM_001365052.1:c.1242_1245dup | NP_001351981.1:p.Lys416CysfsTer2 | |
| NM_000488.4:c.1386_1389dup MANE Select | NP_000479.1:p.Lys464CysfsTer2 | |
| NM_001365052.2:c.1242_1245dup | NP_001351981.1:p.Lys416CysfsTer2 | |
| NM_001386302.1:c.1509_1512dup | NP_001373231.1:p.Lys505CysfsTer2 | |
| NM_001386303.1:c.1467_1470dup | NP_001373232.1:p.Lys491CysfsTer2 | |
| NM_001386304.1:c.1365_1368dup | NP_001373233.1:p.Lys457CysfsTer2 | |
| NM_001386305.1:c.1329_1332dup | NP_001373234.1:p.Lys445CysfsTer2 | |
| NM_001386306.1:c.1170_1173dup | NP_001373235.1:p.Lys392CysfsTer2 |