Linked Data
dbSNP Id:
rs1194385759
gnomAD v2:
1-115220471-C-CTTCCTTCG
gnomAD v3:
1-114677850-C-CTTCCTTCG
gnomAD v4:
1-114677850-C-CTTCCTTCG
MyVariant Identifiers:
chr1:g.115220471_115220472insTTCCTTCG (hg19)
chr1:g.114677850_114677851insTTCCTTCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677853_114677854insCTTCGTTC , CM000663.2:g.114677853_114677854insCTTCGTTC | GRCh38 |
| NC_000001.10:g.115220474_115220475insCTTCGTTC , CM000663.1:g.115220474_115220475insCTTCGTTC | GRCh37 |
| NC_000001.9:g.115021997_115021998insCTTCGTTC | NCBI36 |
| NG_008012.1:g.22705_22706insCGAAGGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+59_1212+60insCGAAGGAA | ENSP00000358551.4:n.1212+59_1212+60insCGAAGGAA | |
| ENST00000520113.7:c.1224+59_1224+60insCGAAGGAA MANE Select | ENSP00000430075.3:n.1224+59_1224+60insCGAAGGAA | |
| ENST00000637080.1:c.1007+59_1007+60insCGAAGGAA | ENSP00000489753.1:n.1007+59_1007+60insCGAAGGAA | |
| ENST00000639077.1:n.889+59_889+60insCGAAGGAA | ||
| ENST00000369538.3:c.1311+59_1311+60insCGAAGGAA | ENSP00000358551.3:n.1311+59_1311+60insCGAAGGAA | |
| ENST00000520113.6:c.1323+59_1323+60insCGAAGGAA | ENSP00000430075.2:n.1323+59_1323+60insCGAAGGAA | |
| NM_000036.2:c.1323+59_1323+60insCGAAGGAA | NP_000027.2:n.1323+59_1323+60insCGAAGGAA | |
| NM_001172626.1:c.1311+59_1311+60insCGAAGGAA | NP_001166097.1:n.1311+59_1311+60insCGAAGGAA | |
| NM_000036.3:c.1224+59_1224+60insCGAAGGAA MANE Select | NP_000027.3:n.1224+59_1224+60insCGAAGGAA | |
| NM_001172626.2:c.1212+59_1212+60insCGAAGGAA | NP_001166097.2:n.1212+59_1212+60insCGAAGGAA |