Linked Data
dbSNP Id:
rs1933485128
gnomAD v3:
14-23423486-C-CACAGAG
gnomAD v4:
14-23423486-C-CACAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423487_23423488insCAGAGA , CM000676.2:g.23423487_23423488insCAGAGA | GRCh38 |
| NC_000014.8:g.23892696_23892697insCAGAGA , CM000676.1:g.23892696_23892697insCAGAGA | GRCh37 |
| NC_000014.7:g.22962536_22962537insCAGAGA | NCBI36 |
| NG_007884.1:g.17175_17176insCTCTGT , LRG_384:g.17175_17176insCTCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+60_3099+61insCTCTGT MANE Select | ENSP00000347507.3:n.3099+60_3099+61insCTCTGT | |
| ENST00000355349.3:c.3099+60_3099+61insCTCTGT | ENSP00000347507.3:n.3099+60_3099+61insCTCTGT | |
| NM_000257.3:c.3099+60_3099+61insCTCTGT | NP_000248.2:n.3099+60_3099+61insCTCTGT | |
| XR_245686.3:n.3205+60_3205+61insCTCTGT | ||
| XM_017021340.1:c.3099+60_3099+61insCTCTGT | XP_016876829.1:n.3099+60_3099+61insCTCTGT | |
| NM_000257.4:c.3099+60_3099+61insCTCTGT MANE Select | NP_000248.2:n.3099+60_3099+61insCTCTGT |