Linked Data
dbSNP Id:
rs1041884583
gnomAD v2:
7-99696110-GTTC-G
gnomAD v3:
7-100098487-GTTC-G
gnomAD v4:
7-100098487-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100098493_100098495del , CM000669.2:g.100098493_100098495del | GRCh38 |
| NC_000007.13:g.99696116_99696118del , CM000669.1:g.99696116_99696118del | GRCh37 |
| NC_000007.12:g.99534052_99534054del | NCBI36 |
| NG_016312.1:g.1987_1989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425308.6:c.399+88_399+90del | ENSP00000411295.2:n.399+88_399+90del | |
| ENST00000485286.6:n.1332+88_1332+90del | ||
| ENST00000489841.6:n.1441+88_1441+90del | ||
| ENST00000710813.1:c.399+88_399+90del | ENSP00000518500.1:n.399+88_399+90del | |
| ENST00000710814.1:c.399+88_399+90del | ENSP00000518501.1:n.399+88_399+90del | |
| ENST00000710815.1:c.399+88_399+90del | ENSP00000518502.1:n.399+88_399+90del | |
| ENST00000303887.10:c.720+88_720+90del MANE Select | ENSP00000307288.5:n.720+88_720+90del | |
| ENST00000303887.9:c.720+88_720+90del | ENSP00000307288.5:n.720+88_720+90del | |
| ENST00000343023.10:c.720+88_720+90del | ENSP00000344006.6:n.720+88_720+90del | |
| ENST00000354230.7:c.192+88_192+90del | ENSP00000346171.3:n.192+88_192+90del | |
| ENST00000425308.5:c.399+88_399+90del | ENSP00000411295.1:n.399+88_399+90del | |
| ENST00000463722.5:n.1095+88_1095+90del | ||
| ENST00000485286.5:n.1309+88_1309+90del | ||
| ENST00000489841.5:n.871+88_871+90del | ||
| ENST00000491245.6:c.85+1163_85+1165del | ||
| ENST00000621318.4:c.192+88_192+90del | ENSP00000483795.1:n.192+88_192+90del | |
| NM_001278595.1:c.192+88_192+90del | NP_001265524.1:n.192+88_192+90del | |
| NM_005916.4:c.720+88_720+90del | NP_005907.3:n.720+88_720+90del | |
| NM_182776.2:c.192+88_192+90del | NP_877577.1:n.192+88_192+90del | |
| XM_005250348.2:c.399+88_399+90del | XP_005250405.1:n.399+88_399+90del | |
| XM_005250348.3:c.399+88_399+90del | XP_005250405.1:n.399+88_399+90del | |
| XM_017012217.2:c.399+88_399+90del | XP_016867706.1:n.399+88_399+90del | |
| NM_001278595.2:c.192+88_192+90del | NP_001265524.1:n.192+88_192+90del | |
| NM_005916.5:c.720+88_720+90del MANE Select | NP_005907.3:n.720+88_720+90del | |
| NM_182776.3:c.192+88_192+90del | NP_877577.1:n.192+88_192+90del |