Linked Data
dbSNP Id:
rs764453419
ExAC:
2:48010673 G / GT
gnomAD v2:
2-48010673-G-GT
gnomAD v3:
2-47783534-G-GT
gnomAD v4:
2-47783534-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783534_47783535insT , CM000664.2:g.47783534_47783535insT | GRCh38 |
| NC_000002.11:g.48010673_48010674insT , CM000664.1:g.48010673_48010674insT | GRCh37 |
| NC_000002.10:g.47864177_47864178insT | NCBI36 |
| NG_007111.1:g.5388_5389insT , LRG_219:g.5388_5389insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.260+41_260+42insT | ENSP00000514752.2:n.260+41_260+42insT | |
| ENST00000699999.1:n.344+41_344+42insT | ||
| ENST00000700000.1:c.260+41_260+42insT | ENSP00000514749.1:n.260+41_260+42insT | |
| ENST00000700001.1:n.332+41_332+42insT | ||
| ENST00000700002.1:c.260+41_260+42insT | ENSP00000514750.1:n.260+41_260+42insT | |
| ENST00000700003.1:c.260+41_260+42insT | ENSP00000514751.1:n.260+41_260+42insT | |
| ENST00000234420.11:c.260+41_260+42insT MANE Select | ENSP00000234420.5:n.260+41_260+42insT | |
| ENST00000540021.6:c.237+64_237+65insT | ENSP00000446475.1:n.237+64_237+65insT | |
| ENST00000652107.1:c.-37-7393_-37-7392insT | ENSP00000498629.1:n.-37-7393_-37-7392insT | |
| ENST00000673637.1:c.-38+303_-38+304insT | ENSP00000501310.1:n.-38+303_-38+304insT | |
| ENST00000673922.1:n.349+41_349+42insT | ||
| ENST00000234420.9:c.260+41_260+42insT | ENSP00000234420.4:n.260+41_260+42insT | |
| ENST00000445503.5:c.260+41_260+42insT | ENSP00000405294.1:n.260+41_260+42insT | |
| ENST00000456246.1:c.260+41_260+42insT | ENSP00000410570.1:n.260+41_260+42insT | |
| ENST00000493177.1:n.324+41_324+42insT | ||
| ENST00000540021.5:c.237+64_237+65insT | ENSP00000446475.1:n.237+64_237+65insT | |
| ENST00000606499.1:c.-37-7393_-37-7392insT | ENSP00000475605.1:n.-37-7393_-37-7392insT | |
| ENST00000614496.4:c.-477+41_-477+42insT | ENSP00000477844.1:n.-477+41_-477+42insT | |
| ENST00000616033.4:c.257+41_257+42insT | ENSP00000480261.1:n.257+41_257+42insT | |
| ENST00000622629.4:c.-2837+41_-2837+42insT | ENSP00000482078.1:n.-2837+41_-2837+42insT | |
| NM_000179.2:c.260+41_260+42insT , LRG_219t1:c.260+41_260+42insT | NP_000170.1:n.260+41_260+42insT | |
| NM_001281492.1:c.237+64_237+65insT | NP_001268421.1:n.237+64_237+65insT | |
| NM_001281493.1:c.-477+41_-477+42insT | NP_001268422.1:n.-477+41_-477+42insT | |
| XM_011532800.1:c.-38+303_-38+304insT | XP_011531102.1:n.-38+303_-38+304insT | |
| XM_024452819.1:c.260+41_260+42insT | XP_024308587.1:n.260+41_260+42insT | |
| XM_024452822.1:c.-477+41_-477+42insT | XP_024308590.1:n.-477+41_-477+42insT | |
| NM_000179.3:c.260+41_260+42insT MANE Select | NP_000170.1:n.260+41_260+42insT | |
| NM_001281492.2:c.237+64_237+65insT | NP_001268421.1:n.237+64_237+65insT | |
| NM_001281493.2:c.-477+41_-477+42insT | NP_001268422.1:n.-477+41_-477+42insT |