Linked Data
ClinVar Variation Id:
228252
dbSNP Id:
rs876657637
gnomAD v2:
14-74138258-ATTATCTT-A
gnomAD v3:
14-73671555-ATTATCTT-A
gnomAD v4:
14-73671555-ATTATCTT-A
PubMed:
PMID:21496787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73671557_73671563del , CM000676.2:g.73671557_73671563del | GRCh38 |
| NC_000014.8:g.74138260_74138266del , CM000676.1:g.74138260_74138266del | GRCh37 |
| NC_000014.7:g.73208013_73208019del | NCBI36 |
| NG_028083.1:g.31683_31689del | |
| NG_028083.2:g.31683_31689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.224_230del MANE Select | ENSP00000452037.1:p.Leu75Ter | |
| ENST00000311089.7:c.-116_-110del | ENSP00000310360.3:n.-116_-110del | |
| ENST00000553645.6:c.224_230del | ENSP00000452037.1:p.Leu75Ter | |
| ENST00000554113.5:c.-116_-110del | ENSP00000452368.1:n.-116_-110del | |
| ENST00000554159.1:c.151+9515_151+9521del | ENSP00000451264.1:n.151+9515_151+9521del | |
| ENST00000554339.5:c.4-15702_4-15696del | ENSP00000450744.1:n.4-15702_4-15696del | |
| ENST00000554871.5:c.107_113del | ENSP00000451834.1:p.Leu36Ter | |
| ENST00000555631.6:c.107_113del | ENSP00000451547.2:p.Leu36Ter | |
| ENST00000555919.7:c.107_113del | ENSP00000451101.2:p.Leu36Ter | |
| ENST00000559993.1:c.-263_-257del | ENSP00000453439.1:n.-263_-257del | |
| NM_001201366.1:c.107_113del | NP_001188295.1:p.Leu36Ter | |
| NM_031427.3:c.224_230del | NP_113615.2:p.Leu75Ter | |
| XM_011537204.1:c.107_113del | XP_011535506.1:p.Leu36Ter | |
| XM_017021679.2:c.107_113del | XP_016877168.1:p.Leu36Ter | |
| XM_024449715.1:c.107_113del | XP_024305483.1:p.Leu36Ter | |
| NM_031427.4:c.224_230del MANE Select | NP_113615.2:p.Leu75Ter | |
| NM_001201366.2:c.107_113del | NP_001188295.1:p.Leu36Ter |