Linked Data
dbSNP Id:
rs760296361
ExAC:
16:67974024 TCAC / T
gnomAD v2:
16-67974024-TCAC-T
gnomAD v4:
16-67940121-TCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940124_67940126del , CM000678.2:g.67940124_67940126del | GRCh38 |
| NC_000016.9:g.67974027_67974029del , CM000678.1:g.67974027_67974029del | GRCh37 |
| NC_000016.8:g.66531528_66531530del | NCBI36 |
| NG_009778.1:g.8989_8991del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1103_1105del MANE Select | ENSP00000264005.5:p.Gly368del | |
| ENST00000264005.9:c.1103_1105del | ENSP00000264005.5:p.Gly368del | |
| ENST00000570369.5:c.156-50_156-48del | ||
| ENST00000573538.5:c.841_843del | ENSP00000463220.1:n.841_843del | |
| NM_000229.1:c.1103_1105del | NP_000220.1:p.Gly368del | |
| NM_000229.2:c.1103_1105del MANE Select | NP_000220.1:p.Gly368del |