Linked Data
ClinVar Variation Id:
503699
dbSNP Id:
rs1400535021
gnomAD v2:
7-44185193-GC-G
gnomAD v4:
7-44145594-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145598del , CM000669.2:g.44145598del | GRCh38 |
| NC_000007.13:g.44185197del , CM000669.1:g.44185197del | GRCh37 |
| NC_000007.12:g.44151722del | NCBI36 |
| NG_008847.1:g.48829del | |
| NG_008847.2:g.57576del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1153del | ENSP00000379142.4:n.*1153del | |
| ENST00000616242.5:c.*275del | ENSP00000482149.2:n.*275del | |
| ENST00000683378.1:n.381del | ||
| ENST00000336642.9:c.189del | ENSP00000338009.5:p.Leu64TrpfsTer16 | |
| ENST00000345378.7:c.1158del | ENSP00000223366.2:p.Leu387TrpfsTer16 | |
| ENST00000403799.8:c.1155del MANE Select | ENSP00000384247.3:p.Leu386TrpfsTer16 | |
| ENST00000671824.1:c.1218del | ENSP00000500264.1:p.Leu407TrpfsTer16 | |
| ENST00000672743.1:n.167del | ||
| ENST00000673284.1:c.1155del | ENSP00000499852.1:p.Leu386TrpfsTer16 | |
| ENST00000336642.8:c.207del | ENSP00000338009.4:p.Leu70TrpfsTer16 | |
| ENST00000345378.6:c.1158del | ENSP00000223366.2:p.Leu387TrpfsTer16 | |
| ENST00000395796.7:c.1152del | ENSP00000379142.3:p.Leu385TrpfsTer16 | |
| ENST00000403799.7:c.1155del | ENSP00000384247.3:p.Leu386TrpfsTer16 | |
| ENST00000437084.1:c.1104del | ENSP00000402840.1:p.Leu369TrpfsTer16 | |
| ENST00000459642.1:n.535del | ||
| ENST00000616242.4:c.1152del | ENSP00000482149.1:p.Leu385TrpfsTer16 | |
| NM_000162.3:c.1155del | NP_000153.1:p.Leu386TrpfsTer16 | |
| NM_033507.1:c.1158del | NP_277042.1:p.Leu387TrpfsTer16 | |
| NM_033508.1:c.1152del | NP_277043.1:p.Leu385TrpfsTer16 | |
| NM_000162.4:c.1155del | NP_000153.1:p.Leu386TrpfsTer16 | |
| NM_001354800.1:c.1155del | NP_001341729.1:p.Leu386TrpfsTer16 | |
| NM_001354801.1:c.144del | NP_001341730.1:p.Leu49TrpfsTer16 | |
| NM_001354802.1:c.15del | NP_001341731.1:p.Leu6TrpfsTer16 | |
| NM_001354803.1:c.189del | NP_001341732.1:p.Leu64TrpfsTer16 | |
| NM_033507.2:c.1158del | NP_277042.1:p.Leu387TrpfsTer16 | |
| NM_033508.2:c.1152del | NP_277043.1:p.Leu385TrpfsTer16 | |
| XM_024446707.1:c.15del | XP_024302475.1:p.Leu6TrpfsTer16 | |
| NM_000162.5:c.1155del MANE Select | NP_000153.1:p.Leu386TrpfsTer16 | |
| NM_033507.3:c.1158del | NP_277042.1:p.Leu387TrpfsTer16 | |
| NM_033508.3:c.1152del | NP_277043.1:p.Leu385TrpfsTer16 | |
| NM_001354803.2:c.189del | NP_001341732.1:p.Leu64TrpfsTer16 |