Linked Data
dbSNP Id:
rs1381260811
gnomAD v2:
4-88929576-C-CTCG
gnomAD v3:
4-88008424-C-CTCG
gnomAD v4:
4-88008424-C-CTCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008425_88008427dup , CM000666.2:g.88008425_88008427dup | GRCh38 |
| NC_000004.11:g.88929577_88929579dup , CM000666.1:g.88929577_88929579dup | GRCh37 |
| NC_000004.10:g.89148601_89148603dup | NCBI36 |
| NG_008604.1:g.5758_5760dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+97_595+99dup MANE Select | ENSP00000237596.2:n.595+97_595+99dup | |
| ENST00000237596.6:c.595+97_595+99dup | ENSP00000237596.2:n.595+97_595+99dup | |
| ENST00000506727.1:n.97+97_97+99dup | ||
| NM_000297.3:c.595+97_595+99dup | NP_000288.1:n.595+97_595+99dup | |
| XM_011532028.1:c.595+97_595+99dup | XP_011530330.1:n.595+97_595+99dup | |
| XR_244632.2:n.690+97_690+99dup | ||
| NR_156488.1:n.682+97_682+99dup | ||
| XM_011532028.2:c.595+97_595+99dup | XP_011530330.1:n.595+97_595+99dup | |
| NM_000297.4:c.595+97_595+99dup MANE Select | NP_000288.1:n.595+97_595+99dup | |
| NR_156488.2:n.694+97_694+99dup |