Linked Data
dbSNP Id:
rs1490401324
gnomAD v2:
4-122607191-T-TTTC
gnomAD v3:
4-121686036-T-TTTC
gnomAD v4:
4-121686036-T-TTTC
MyVariant Identifiers:
chr4:g.122607191_122607192insTTC (hg19)
chr4:g.121686036_121686037insTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121686038_121686039insCTT , CM000666.2:g.121686038_121686039insCTT | GRCh38 |
| NC_000004.11:g.122607193_122607194insCTT , CM000666.1:g.122607193_122607194insCTT | GRCh37 |
| NC_000004.10:g.122826643_122826644insCTT | NCBI36 |
| NG_032042.1:g.15956_15957insGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.94+251_94+252insGAA MANE Select | ENSP00000296511.5:n.94+251_94+252insGAA | |
| ENST00000296511.9:c.94+251_94+252insGAA | ENSP00000296511.5:n.94+251_94+252insGAA | |
| ENST00000501272.6:c.10-2560_10-2559insGAA | ENSP00000424106.1:n.10-2560_10-2559insGAA... | |
| ENST00000506395.5:c.94+251_94+252insGAA | ENSP00000421421.1:n.94+251_94+252insGAA | |
| ENST00000509016.5:n.215+251_215+252insGAA | ||
| ENST00000511552.5:n.480+251_480+252insGAA | ||
| ENST00000513428.5:n.259+251_259+252insGAA | ||
| ENST00000513523.1:n.262+251_262+252insGAA | ||
| ENST00000513728.1:c.94+251_94+252insGAA | ENSP00000427135.1:n.94+251_94+252insGAA | |
| ENST00000515017.5:c.94+251_94+252insGAA | ENSP00000424199.1:n.94+251_94+252insGAA | |
| NM_001154.3:c.94+251_94+252insGAA | NP_001145.1:n.94+251_94+252insGAA | |
| XM_017008141.2:c.94+251_94+252insGAA | XP_016863630.1:n.94+251_94+252insGAA | |
| NM_001154.4:c.94+251_94+252insGAA MANE Select | NP_001145.1:n.94+251_94+252insGAA |