Linked Data
dbSNP Id:
rs1415584998
gnomAD v2:
1-115220414-C-CCT
gnomAD v3:
1-114677793-C-CCT
gnomAD v4:
1-114677793-C-CCT
MyVariant Identifiers:
chr1:g.115220414_115220415insCT (hg19)
chr1:g.114677793_114677794insCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677793_114677794insCT , CM000663.2:g.114677793_114677794insCT | GRCh38 |
| NC_000001.10:g.115220414_115220415insCT , CM000663.1:g.115220414_115220415insCT | GRCh37 |
| NC_000001.9:g.115021937_115021938insCT | NCBI36 |
| NG_008012.1:g.22762_22763insAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+116_1212+117insAG | ENSP00000358551.4:n.1212+116_1212+117insA... | |
| ENST00000520113.7:c.1224+116_1224+117insAG MANE Select | ENSP00000430075.3:n.1224+116_1224+117insA... | |
| ENST00000637080.1:c.1007+116_1007+117insAG | ENSP00000489753.1:n.1007+116_1007+117insA... | |
| ENST00000639077.1:n.889+116_889+117insAG | ||
| ENST00000369538.3:c.1311+116_1311+117insAG | ENSP00000358551.3:n.1311+116_1311+117insA... | |
| ENST00000520113.6:c.1323+116_1323+117insAG | ENSP00000430075.2:n.1323+116_1323+117insA... | |
| NM_000036.2:c.1323+116_1323+117insAG | NP_000027.2:n.1323+116_1323+117insAG | |
| NM_001172626.1:c.1311+116_1311+117insAG | NP_001166097.1:n.1311+116_1311+117insAG | |
| NM_000036.3:c.1224+116_1224+117insAG MANE Select | NP_000027.3:n.1224+116_1224+117insAG | |
| NM_001172626.2:c.1212+116_1212+117insAG | NP_001166097.2:n.1212+116_1212+117insAG |