Linked Data
dbSNP Id:
rs1468552789
gnomAD v3:
22-50697541-T-TCGCGTCCGTCACCTAC
gnomAD v4:
22-50697541-T-TCGCGTCCGTCACCTAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697541_50697542insCGCGTCCGTCACCTAC , CM000684.2:g.50697541_50697542insCGCGTCCGTCACCTAC | GRCh38 |
| NC_000022.10:g.51135969_51135970insCGCGTCCGTCACCTAC , CM000684.1:g.51135969_51135970insCGCGTCCGTCACCTAC | GRCh37 |
| NC_000022.9:g.49482835_49482836insCGCGTCCGTCACCTAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-23_948-22insCGCGTCCGTCACCTAC | ENSP00000489147.2:n.948-23_948-22insCGCGTCCGTCACCTAC | |
| ENST00000414786.7:n.1532-23_1532-22insCGCGTCCGTCACCTAC | ||
| ENST00000673971.2:c.1305-23_1305-22insCGCGTCCGTCACCTAC | ENSP00000501192.1:n.1305-23_1305-22insCGCGTCCGTCACCTAC | |
| ENST00000262795.6:c.948-23_948-22insCGCGTCCGTCACCTAC | ENSP00000489147.2:n.948-23_948-22insCGCGTCCGTCACCTAC | |
| ENST00000673971.1:c.1305-23_1305-22insCGCGTCCGTCACCTAC | ENSP00000501192.1:n.1305-23_1305-22insCGCGTCCGTCACCTAC | |
| ENST00000262795.5:c.1345-24_1345-23insCGCGTCCGTCACCTAC | ENSP00000489147.1:n.1345-24_1345-23insCGCGTCCGTCACCTAC | |
| ENST00000414786.6:n.1532-23_1532-22insCGCGTCCGTCACCTAC | ||
| ENST00000445220.5:c.1326-23_1326-22insCGCGTCCGTCACCTAC | ENSP00000489407.1:n.1326-23_1326-22insCGCGTCCGTCACCTAC |