Linked Data
dbSNP Id:
rs1390041261
gnomAD v2:
11-67352684-AATACATCTC-A
gnomAD v3:
11-67585213-AATACATCTC-A
gnomAD v4:
11-67585213-AATACATCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585214_67585222del , CM000673.2:g.67585214_67585222del | GRCh38 |
| NC_000011.9:g.67352685_67352693del , CM000673.1:g.67352685_67352693del | GRCh37 |
| NC_000011.8:g.67109261_67109269del | NCBI36 |
| NG_012075.1:g.6620_6628del , LRG_723:g.6620_6628del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.309_317del | ENSP00000381604.1:p.Lys103_Ser106delinsAs... | |
| ENST00000398606.10:c.309_317del MANE Select | ENSP00000381607.3:p.Lys103_Ser106delinsAs... | |
| ENST00000646888.1:c.*25_*33del | ENSP00000494477.1:n.*25_*33del | |
| ENST00000398603.5:c.309_317del | ENSP00000381604.1:p.Lys103_Ser106delinsAs... | |
| ENST00000398606.7:c.309_317del | ENSP00000381607.3:p.Lys103_Ser106delinsAs... | |
| ENST00000467591.1:n.420_428del | ||
| ENST00000494593.1:n.1104_1112del | ||
| ENST00000498765.5:c.372_380del | ||
| NM_000852.3:c.309_317del , LRG_723t1:c.309_317del | NP_000843.1:p.Lys103_Ser106delinsAsn | |
| NM_000852.4:c.309_317del MANE Select | NP_000843.1:p.Lys103_Ser106delinsAsn |