Linked Data
dbSNP Id:
rs1239882791
gnomAD v2:
1-115220435-C-CTTCT
gnomAD v3:
1-114677814-C-CTTCT
gnomAD v4:
1-114677814-C-CTTCT
MyVariant Identifiers:
chr1:g.115220435_115220436insTTCT (hg19)
chr1:g.114677814_114677815insTTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677817_114677818insTTTC , CM000663.2:g.114677817_114677818insTTTC | GRCh38 |
| NC_000001.10:g.115220438_115220439insTTTC , CM000663.1:g.115220438_115220439insTTTC | GRCh37 |
| NC_000001.9:g.115021961_115021962insTTTC | NCBI36 |
| NG_008012.1:g.22741_22742insAGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+95_1212+96insAGAA | ENSP00000358551.4:n.1212+95_1212+96insAGAA | |
| ENST00000520113.7:c.1224+95_1224+96insAGAA MANE Select | ENSP00000430075.3:n.1224+95_1224+96insAGAA | |
| ENST00000637080.1:c.1007+95_1007+96insAGAA | ENSP00000489753.1:n.1007+95_1007+96insAGAA | |
| ENST00000639077.1:n.889+95_889+96insAGAA | ||
| ENST00000369538.3:c.1311+95_1311+96insAGAA | ENSP00000358551.3:n.1311+95_1311+96insAGAA | |
| ENST00000520113.6:c.1323+95_1323+96insAGAA | ENSP00000430075.2:n.1323+95_1323+96insAGAA | |
| NM_000036.2:c.1323+95_1323+96insAGAA | NP_000027.2:n.1323+95_1323+96insAGAA | |
| NM_001172626.1:c.1311+95_1311+96insAGAA | NP_001166097.1:n.1311+95_1311+96insAGAA | |
| NM_000036.3:c.1224+95_1224+96insAGAA MANE Select | NP_000027.3:n.1224+95_1224+96insAGAA | |
| NM_001172626.2:c.1212+95_1212+96insAGAA | NP_001166097.2:n.1212+95_1212+96insAGAA |