Linked Data
dbSNP Id:
rs1555132654
gnomAD v2:
12-6979548-GC-G
gnomAD v4:
12-6870384-GC-G
MyVariant Identifiers:
chr12:g.6979549del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870388del , CM000674.2:g.6870388del | GRCh38 |
| NC_000012.11:g.6979552del , CM000674.1:g.6979552del | GRCh37 |
| NC_000012.10:g.6849813del | NCBI36 |
| NG_011948.1:g.7969del | |
| NG_013308.1:g.7973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.*5del MANE Select | ENSP00000379933.4:n.*5del | |
| ENST00000229270.8:c.*5del | ENSP00000229270.4:n.*5del | |
| ENST00000396705.9:c.*5del | ENSP00000379933.4:n.*5del | |
| ENST00000474253.1:n.244del | ||
| ENST00000535434.5:c.*5del | ENSP00000443599.1:n.*5del | |
| ENST00000613953.4:c.*5del | ENSP00000484435.1:n.*5del | |
| NM_000365.5:c.*5del | NP_000356.1:n.*5del | |
| NM_001159287.1:c.*5del | NP_001152759.1:n.*5del | |
| NM_001258026.1:c.*5del | NP_001244955.1:n.*5del | |
| XR_002957378.1:n.1763del | ||
| NM_000365.6:c.*5del MANE Select | NP_000356.1:n.*5del | |
| NM_001258026.2:c.*5del | NP_001244955.1:n.*5del |