Linked Data
dbSNP Id:
rs777613537
ExAC:
21:36259236 G / GCA
gnomAD v2:
21-36259236-G-GCA
gnomAD v4:
21-34886939-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886939_34886940insCA , CM000683.2:g.34886939_34886940insCA | GRCh38 |
| NC_000021.8:g.36259236_36259237insCA , CM000683.1:g.36259236_36259237insCA | GRCh37 |
| NC_000021.7:g.35181106_35181107insCA | NCBI36 |
| NG_011402.2:g.1102772_1102773insTG , LRG_482:g.1102772_1102773insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.254_255insTG MANE Select | ENSP00000501943.1:p.Pro86AlafsTer? | |
| ENST00000300305.7:c.254_255insTG | ENSP00000300305.3:p.Pro86AlafsTer? | |
| ENST00000344691.8:c.173_174insTG | ENSP00000340690.4:p.Pro59AlafsTer? | |
| ENST00000358356.9:c.173_174insTG | ENSP00000351123.5:p.Pro59AlafsTer? | |
| ENST00000399237.6:c.218_219insTG | ENSP00000382182.2:p.Pro74AlafsTer? | |
| ENST00000399240.5:c.173_174insTG | ENSP00000382184.1:p.Pro59AlafsTer? | |
| ENST00000437180.5:c.254_255insTG | ENSP00000409227.1:p.Pro86AlafsTer? | |
| ENST00000455571.5:c.215_216insTG | ENSP00000388189.1:p.Pro73AlafsTer? | |
| ENST00000482318.5:c.59-6227_59-6226insTG | ENSP00000477067.1:n.59-6227_59-6226insTG | |
| NM_001001890.2:c.173_174insTG | NP_001001890.1:p.Pro59AlafsTer? | |
| NM_001122607.1:c.173_174insTG | NP_001116079.1:p.Pro59AlafsTer? | |
| NM_001754.4:c.254_255insTG , LRG_482t1:c.254_255insTG | NP_001745.2:p.Pro86AlafsTer? | |
| XM_005261068.3:c.218_219insTG | XP_005261125.1:p.Pro74AlafsTer? | |
| XM_005261069.3:c.254_255insTG | XP_005261126.1:p.Pro86AlafsTer? | |
| XM_011529766.1:c.254_255insTG | XP_011528068.1:p.Pro86AlafsTer? | |
| XM_011529767.1:c.215_216insTG | XP_011528069.1:p.Pro73AlafsTer? | |
| XM_011529768.1:c.215_216insTG | XP_011528070.1:p.Pro73AlafsTer? | |
| XM_011529770.1:c.254_255insTG | XP_011528072.1:p.Pro86AlafsTer? | |
| XR_937576.1:n.433_434insTG | ||
| XM_005261069.4:c.254_255insTG | XP_005261126.1:p.Pro86AlafsTer? | |
| XM_011529766.2:c.254_255insTG | XP_011528068.1:p.Pro86AlafsTer? | |
| XM_011529767.2:c.215_216insTG | XP_011528069.1:p.Pro73AlafsTer? | |
| XM_011529768.2:c.215_216insTG | XP_011528070.1:p.Pro73AlafsTer? | |
| XM_011529770.2:c.254_255insTG | XP_011528072.1:p.Pro86AlafsTer? | |
| XM_017028487.1:c.101_102insTG | XP_016883976.1:p.Pro35AlafsTer? | |
| XR_937576.2:n.480_481insTG | ||
| NM_001001890.3:c.173_174insTG | NP_001001890.1:p.Pro59AlafsTer? | |
| NM_001122607.2:c.173_174insTG | NP_001116079.1:p.Pro59AlafsTer? | |
| NM_001754.5:c.254_255insTG MANE Select | NP_001745.2:p.Pro86AlafsTer? |