Linked Data
dbSNP Id:
rs577563650
gnomAD v2:
15-67358804-GGAGT-G
gnomAD v3:
15-67066466-GGAGT-G
gnomAD v4:
15-67066466-GGAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066470_67066473del , CM000677.2:g.67066470_67066473del | GRCh38 |
| NC_000015.9:g.67358808_67358811del , CM000677.1:g.67358808_67358811del | GRCh37 |
| NC_000015.8:g.65145862_65145865del | NCBI36 |
| NG_011990.1:g.5614_5617del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2526_-110+2529del | ENSP00000453082.2:n.-110+2526_-110+2529del | |
| ENST00000560424.2:c.206+110_206+113del | ENSP00000455540.2:n.206+110_206+113del | |
| ENST00000327367.9:c.206+110_206+113del MANE Select | ENSP00000332973.4:n.206+110_206+113del | |
| ENST00000327367.8:c.206+110_206+113del | ENSP00000332973.4:n.206+110_206+113del | |
| ENST00000559460.5:c.-110+2526_-110+2529del | ENSP00000453082.1:n.-110+2526_-110+2529del | |
| NM_005902.3:c.206+110_206+113del | NP_005893.1:n.206+110_206+113del | |
| XM_011521559.1:c.206+110_206+113del | XP_011519861.1:n.206+110_206+113del | |
| XM_011521559.3:c.206+110_206+113del | XP_011519861.1:n.206+110_206+113del | |
| NM_005902.4:c.206+110_206+113del MANE Select | NP_005893.1:n.206+110_206+113del |