Linked Data
dbSNP Id:
rs1469673561
gnomAD v2:
4-122606788-G-GTA
gnomAD v3:
4-121685633-G-GTA
gnomAD v4:
4-121685633-G-GTA
MyVariant Identifiers:
chr4:g.122606788_122606789insTA (hg19)
chr4:g.121685633_121685634insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121685634_121685635dup , CM000666.2:g.121685634_121685635dup | GRCh38 |
| NC_000004.11:g.122606789_122606790dup , CM000666.1:g.122606789_122606790dup | GRCh37 |
| NC_000004.10:g.122826239_122826240dup | NCBI36 |
| NG_032042.1:g.16358_16359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296511.10:c.94+653_94+654dup MANE Select | ENSP00000296511.5:n.94+653_94+654dup | |
| ENST00000296511.9:c.94+653_94+654dup | ENSP00000296511.5:n.94+653_94+654dup | |
| ENST00000501272.6:c.10-2158_10-2157dup | ENSP00000424106.1:n.10-2158_10-2157dup | |
| ENST00000506395.5:c.94+653_94+654dup | ENSP00000421421.1:n.94+653_94+654dup | |
| ENST00000509016.5:n.215+653_215+654dup | ||
| ENST00000511552.5:n.480+653_480+654dup | ||
| ENST00000513428.5:n.259+653_259+654dup | ||
| ENST00000513523.1:n.262+653_262+654dup | ||
| ENST00000513728.1:c.94+653_94+654dup | ENSP00000427135.1:n.94+653_94+654dup | |
| ENST00000515017.5:c.94+653_94+654dup | ENSP00000424199.1:n.94+653_94+654dup | |
| NM_001154.3:c.94+653_94+654dup | NP_001145.1:n.94+653_94+654dup | |
| XM_017008141.2:c.94+653_94+654dup | XP_016863630.1:n.94+653_94+654dup | |
| NM_001154.4:c.94+653_94+654dup MANE Select | NP_001145.1:n.94+653_94+654dup |