Linked Data
dbSNP Id:
rs2138335948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459715del , CM000675.2:g.48459715del | GRCh38 |
| NC_000013.10:g.49033851del , CM000675.1:g.49033851del | GRCh37 |
| NC_000013.9:g.47931852del | NCBI36 |
| NG_009009.1:g.160969del , LRG_517:g.160969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1988del MANE Select | ENSP00000267163.4:p.Asn663IlefsTer14 | |
| ENST00000643064.1:c.194+78272del | ||
| ENST00000650461.1:c.1988del | ENSP00000497193.1:p.Asn663IlefsTer14 | |
| ENST00000267163.4:c.1988del | ENSP00000267163.4:p.Asn663IlefsTer14 | |
| NM_000321.2:c.1988del , LRG_517t1:c.1988del | NP_000312.2:p.Asn663IlefsTer14 | |
| XM_011535171.1:c.1727del | XP_011533473.1:p.Asn576IlefsTer14 | |
| XM_011535171.2:c.1727del | XP_011533473.1:p.Asn576IlefsTer14 | |
| NM_000321.3:c.1988del MANE Select | NP_000312.2:p.Asn663IlefsTer14 |