Linked Data
gnomAD v4:
X-137566850-C-CGCCGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566852_137566853insCGCTGC , CM000685.2:g.137566852_137566853insCGCTGC | GRCh38 |
| NC_000023.10:g.136649011_136649012insCGCTGC , CM000685.1:g.136649011_136649012insCGCTGC | GRCh37 |
| NC_000023.9:g.136476677_136476678insCGCTGC | NCBI36 |
| NG_008115.1:g.5666_5667insCGCTGC | |
| NG_008115.2:g.5726_5727insCGCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.161_162insCGCTGC MANE Select | ENSP00000287538.5:p.Ala54_Ala55insAlaAla | |
| ENST00000287538.9:c.161_162insCGCTGC | ENSP00000287538.5:p.Ala54_Ala55insAlaAla | |
| ENST00000370606.3:c.161_162insCGCTGC | ENSP00000359638.3:p.Ala54_Ala55insAlaAla | |
| NM_003413.3:c.161_162insCGCTGC | NP_003404.1:p.Ala54_Ala55insAlaAla | |
| NM_001330661.1:c.161_162insCGCTGC | NP_001317590.1:p.Ala54_Ala55insAlaAla | |
| NM_003413.4:c.161_162insCGCTGC MANE Select | NP_003404.1:p.Ala54_Ala55insAlaAla |