Linked Data
dbSNP Id:
rs148831563
gnomAD v2:
22-23651007-GCTGT-G
gnomAD v3:
22-23308820-GCTGT-G
gnomAD v4:
22-23308820-GCTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23308824_23308827del , CM000684.2:g.23308824_23308827del | GRCh38 |
| NC_000022.10:g.23651011_23651014del , CM000684.1:g.23651011_23651014del | GRCh37 |
| NC_000022.9:g.21981011_21981014del | NCBI36 |
| NG_009244.1:g.133460_133463del | |
| NG_009244.2:g.133460_133463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305877.13:c.3013-600_3013-597del MANE Select | ENSP00000303507.8:n.3013-600_3013-597del | |
| ENST00000305877.12:c.3013-600_3013-597del | ENSP00000303507.8:n.3013-600_3013-597del | |
| ENST00000359540.7:c.2881-600_2881-597del | ENSP00000352535.3:n.2881-600_2881-597del | |
| ENST00000398512.9:c.1709-600_1709-597del | ENSP00000381524.6:n.1709-600_1709-597del | |
| ENST00000419722.6:n.238-600_238-597del | ||
| ENST00000475025.5:n.87-600_87-597del | ||
| ENST00000478978.5:n.294-600_294-597del | ||
| NM_004327.3:c.3013-600_3013-597del | NP_004318.3:n.3013-600_3013-597del | |
| NM_021574.2:c.2881-600_2881-597del | NP_067585.2:n.2881-600_2881-597del | |
| NM_004327.4:c.3013-600_3013-597del MANE Select | NP_004318.3:n.3013-600_3013-597del | |
| NM_021574.3:c.2881-600_2881-597del | NP_067585.2:n.2881-600_2881-597del |