Linked Data
dbSNP Id:
rs921069562
gnomAD v2:
3-178936196-AGCAT-A
gnomAD v3:
3-179218408-AGCAT-A
gnomAD v4:
3-179218408-AGCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218410_179218413del , CM000665.2:g.179218410_179218413del | GRCh38 |
| NC_000003.11:g.178936198_178936201del , CM000665.1:g.178936198_178936201del | GRCh37 |
| NC_000003.10:g.180418892_180418895del | NCBI36 |
| NG_012113.2:g.74888_74891del , LRG_310:g.74888_74891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1664+76_1664+79del MANE Select | ENSP00000263967.3:n.1664+76_1664+79del | |
| ENST00000462255.2:n.126+76_126+79del | ||
| ENST00000643187.1:c.1664+76_1664+79del | ENSP00000493507.1:n.1664+76_1664+79del | |
| ENST00000674534.1:n.1494_1497del | ||
| ENST00000674622.1:c.167+76_167+79del | ENSP00000502417.1:n.167+76_167+79del | |
| ENST00000675467.1:n.4471+76_4471+79del | ||
| ENST00000675786.1:c.*231+76_*231+79del | ENSP00000502323.1:n.*231+76_*231+79del | |
| ENST00000263967.3:c.1664+76_1664+79del | ENSP00000263967.3:n.1664+76_1664+79del | |
| NM_006218.2:c.1664+76_1664+79del , LRG_310t1:c.1664+76_1664+79del | NP_006209.2:n.1664+76_1664+79del | |
| XM_006713658.2:c.1664+76_1664+79del | XP_006713721.1:n.1664+76_1664+79del | |
| XM_011512894.1:c.1664+76_1664+79del | XP_011511196.1:n.1664+76_1664+79del | |
| NM_006218.3:c.1664+76_1664+79del | NP_006209.2:n.1664+76_1664+79del | |
| XM_006713658.4:c.1664+76_1664+79del | XP_006713721.1:n.1664+76_1664+79del | |
| XM_011512894.2:c.1664+76_1664+79del | XP_011511196.1:n.1664+76_1664+79del | |
| NM_006218.4:c.1664+76_1664+79del MANE Select | NP_006209.2:n.1664+76_1664+79del |