Linked Data
gnomAD v4:
1-149927540-TTAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927543_149927546del , CM000663.2:g.149927543_149927546del | GRCh38 |
| NC_000001.10:g.149899435_149899438del , CM000663.1:g.149899435_149899438del | GRCh37 |
| NC_000001.9:g.148166059_148166062del | NCBI36 |
| NG_032777.1:g.5709_5712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+182_34+185del MANE Select | ENSP00000271628.8:n.34+182_34+185del | |
| ENST00000271628.8:c.34+182_34+185del | ENSP00000271628.8:n.34+182_34+185del | |
| ENST00000457312.1:c.-208_-205del | ENSP00000391114.1:n.-208_-205del | |
| NM_005850.4:c.34+182_34+185del | NP_005841.1:n.34+182_34+185del | |
| NM_005850.5:c.34+182_34+185del MANE Select | NP_005841.1:n.34+182_34+185del |