Linked Data
gnomAD v2:
13-48954159-CTTT-C
gnomAD v4:
13-48380023-CTTT-C
MyVariant Identifiers:
chr13:g.48954160_48954162del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380034_48380036del , CM000675.2:g.48380034_48380036del | GRCh38 |
| NC_000013.10:g.48954170_48954172del , CM000675.1:g.48954170_48954172del | GRCh37 |
| NC_000013.9:g.47852171_47852173del | NCBI36 |
| NG_009009.1:g.81288_81290del , LRG_517:g.81288_81290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1390-19_1390-17del MANE Select | ENSP00000267163.4:n.1390-19_1390-17del | |
| ENST00000650461.1:c.1390-19_1390-17del | ENSP00000497193.1:n.1390-19_1390-17del | |
| ENST00000267163.4:c.1390-19_1390-17del | ENSP00000267163.4:n.1390-19_1390-17del | |
| NM_000321.2:c.1390-19_1390-17del , LRG_517t1:c.1390-19_1390-17del | NP_000312.2:n.1390-19_1390-17del | |
| XM_011535171.1:c.1129-19_1129-17del | XP_011533473.1:n.1129-19_1129-17del | |
| XM_011535171.2:c.1129-19_1129-17del | XP_011533473.1:n.1129-19_1129-17del | |
| NM_000321.3:c.1390-19_1390-17del MANE Select | NP_000312.2:n.1390-19_1390-17del |