Linked Data
dbSNP Id:
rs750849889
gnomAD v2:
1-119964628-TAATGGGTGG-T
gnomAD v3:
1-119422005-TAATGGGTGG-T
gnomAD v4:
1-119422005-TAATGGGTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422009_119422017del , CM000663.2:g.119422009_119422017del | GRCh38 |
| NC_000001.10:g.119964632_119964640del , CM000663.1:g.119964632_119964640del | GRCh37 |
| NC_000001.9:g.119766155_119766163del | NCBI36 |
| NG_013349.1:g.12079_12087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.508_516del MANE Select | ENSP00000358424.3:p.Gly170_Asn172del | |
| ENST00000369416.3:c.508_516del | ENSP00000358424.3:p.Gly170_Asn172del | |
| ENST00000433745.5:c.508_516del | ENSP00000388292.1:p.Gly170_Asn172del | |
| ENST00000448448.2:n.452_460del | ||
| ENST00000543831.5:c.508_516del | ENSP00000445122.1:p.Gly170_Asn172del | |
| NM_000198.3:c.508_516del | NP_000189.1:p.Gly170_Asn172del | |
| NM_001166120.1:c.508_516del | NP_001159592.1:p.Gly170_Asn172del | |
| NM_000198.4:c.508_516del MANE Select | NP_000189.1:p.Gly170_Asn172del | |
| NM_001166120.2:c.508_516del | NP_001159592.1:p.Gly170_Asn172del |