Linked Data
dbSNP Id:
rs202176656
ExAC:
4:55962559 A / AG
gnomAD v2:
4-55962559-A-AG
gnomAD v3:
4-55096392-A-AG
gnomAD v4:
4-55096392-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096392_55096393insG , CM000666.2:g.55096392_55096393insG | GRCh38 |
| NC_000004.11:g.55962559_55962560insG , CM000666.1:g.55962559_55962560insG | GRCh37 |
| NC_000004.10:g.55657316_55657317insG | NCBI36 |
| NG_012004.1:g.34203_34204insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-51_2615-50insC MANE Select | ENSP00000263923.4:n.2615-51_2615-50insC | |
| ENST00000647068.1:n.2628-51_2628-50insC | ||
| ENST00000263923.4:c.2615-51_2615-50insC | ENSP00000263923.4:n.2615-51_2615-50insC | |
| ENST00000509309.1:n.328_329insC | ||
| NM_002253.2:c.2615-51_2615-50insC | NP_002244.1:n.2615-51_2615-50insC | |
| NM_002253.3:c.2615-51_2615-50insC | NP_002244.1:n.2615-51_2615-50insC | |
| NM_002253.4:c.2615-51_2615-50insC MANE Select | NP_002244.1:n.2615-51_2615-50insC |