Linked Data
dbSNP Id:
rs1562713745
gnomAD v2:
7-44185899-TGCCCC-T
gnomAD v3:
7-44146300-TGCCCC-T
gnomAD v4:
7-44146300-TGCCCC-T
MyVariant Identifiers:
chr7:g.44185906_44185911delinsG (hg19)
chr7:g.44146307_44146312delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146307_44146311del , CM000669.2:g.44146307_44146311del | GRCh38 |
| NC_000007.13:g.44185906_44185910del , CM000669.1:g.44185906_44185910del | GRCh37 |
| NC_000007.12:g.44152431_44152435del | NCBI36 |
| NG_008847.1:g.48119_48123del | |
| NG_008847.2:g.56866_56870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1017+158_*1017+162del | ENSP00000379142.4:n.*1017+158_*1017+162del | |
| ENST00000616242.5:c.*139+158_*139+162del | ENSP00000482149.2:n.*139+158_*139+162del | |
| ENST00000683378.1:n.245+158_245+162del | ||
| ENST00000345378.7:c.1022+158_1022+162del | ENSP00000223366.2:n.1022+158_1022+162del | |
| ENST00000403799.8:c.1019+158_1019+162del MANE Select | ENSP00000384247.3:n.1019+158_1019+162del | |
| ENST00000671824.1:c.1082+158_1082+162del | ENSP00000500264.1:n.1082+158_1082+162del | |
| ENST00000673284.1:c.1019+158_1019+162del | ENSP00000499852.1:n.1019+158_1019+162del | |
| ENST00000345378.6:c.1022+158_1022+162del | ENSP00000223366.2:n.1022+158_1022+162del | |
| ENST00000395796.7:c.1016+158_1016+162del | ENSP00000379142.3:n.1016+158_1016+162del | |
| ENST00000403799.7:c.1019+158_1019+162del | ENSP00000384247.3:n.1019+158_1019+162del | |
| ENST00000437084.1:c.968+158_968+162del | ENSP00000402840.1:n.968+158_968+162del | |
| ENST00000473353.1:n.317+158_317+162del | ||
| ENST00000616242.4:c.1016+158_1016+162del | ENSP00000482149.1:n.1016+158_1016+162del | |
| NM_000162.3:c.1019+158_1019+162del | NP_000153.1:n.1019+158_1019+162del | |
| NM_033507.1:c.1022+158_1022+162del | NP_277042.1:n.1022+158_1022+162del | |
| NM_033508.1:c.1016+158_1016+162del | NP_277043.1:n.1016+158_1016+162del | |
| NM_000162.4:c.1019+158_1019+162del | NP_000153.1:n.1019+158_1019+162del | |
| NM_001354800.1:c.1019+158_1019+162del | NP_001341729.1:n.1019+158_1019+162del | |
| NM_001354801.1:c.8+314_8+318del | NP_001341730.1:n.8+314_8+318del | |
| NM_033507.2:c.1022+158_1022+162del | NP_277042.1:n.1022+158_1022+162del | |
| NM_033508.2:c.1016+158_1016+162del | NP_277043.1:n.1016+158_1016+162del | |
| NM_000162.5:c.1019+158_1019+162del MANE Select | NP_000153.1:n.1019+158_1019+162del | |
| NM_033507.3:c.1022+158_1022+162del | NP_277042.1:n.1022+158_1022+162del | |
| NM_033508.3:c.1016+158_1016+162del | NP_277043.1:n.1016+158_1016+162del |