Linked Data
dbSNP Id:
rs1553186342
gnomAD v3:
1-113449388-T-TGA
gnomAD v4:
1-113449388-T-TGA
MyVariant Identifiers:
chr1:g.113992010_113992011insGA (hg19)
chr1:g.113449388_113449389insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113449389_113449390dup , CM000663.2:g.113449389_113449390dup | GRCh38 |
| NC_000001.10:g.113992011_113992012dup , CM000663.1:g.113992011_113992012dup | GRCh37 |
| NC_000001.9:g.113793534_113793535dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307546.14:c.316+58040_316+58041dup MANE Select | ENSP00000304604.9:n.316+58040_316+58041dup | |
| ENST00000307546.13:c.316+58040_316+58041dup | ENSP00000304604.9:n.316+58040_316+58041dup | |
| ENST00000369611.4:c.316+58040_316+58041dup | ENSP00000358624.4:n.316+58040_316+58041dup | |
| ENST00000369615.5:c.316+58040_316+58041dup | ENSP00000358628.1:n.316+58040_316+58041dup | |
| ENST00000369617.8:c.316+58040_316+58041dup | ENSP00000358630.4:n.316+58040_316+58041dup | |
| ENST00000486456.1:n.219+58040_219+58041dup | ||
| NM_001142782.1:c.316+58040_316+58041dup | NP_001136254.1:n.316+58040_316+58041dup | |
| NM_152900.2:c.316+58040_316+58041dup | NP_690864.2:n.316+58040_316+58041dup | |
| XM_005270737.2:c.316+58040_316+58041dup | XP_005270794.1:n.316+58040_316+58041dup | |
| XR_946601.1:n.876+58040_876+58041dup | ||
| XM_005270737.3:c.316+58040_316+58041dup | XP_005270794.1:n.316+58040_316+58041dup | |
| XM_011541208.2:c.-1941+58040_-1941+58041dup | XP_011539510.1:n.-1941+58040_-1941+58041dup | |
| XM_017000974.1:c.316+58040_316+58041dup | XP_016856463.1:n.316+58040_316+58041dup | |
| XR_001737106.1:n.876+58040_876+58041dup | ||
| XR_946601.2:n.876+58040_876+58041dup | ||
| NM_001142782.2:c.316+58040_316+58041dup MANE Select | NP_001136254.1:n.316+58040_316+58041dup | |
| NM_152900.3:c.316+58040_316+58041dup | NP_690864.2:n.316+58040_316+58041dup |