Linked Data
dbSNP Id:
rs70964193
gnomAD v3:
4-101818872-A-ATTTTTTTTTTTTTTTTTT
gnomAD v4:
4-101818872-A-ATTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101818873_101818890dup , CM000666.2:g.101818873_101818890dup | GRCh38 |
| NC_000004.11:g.102740030_102740047dup , CM000666.1:g.102740030_102740047dup | GRCh37 |
| NC_000004.10:g.102959053_102959070dup | NCBI36 |
| NG_015824.1:g.33267_33284dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322953.9:c.71-10935_71-10918dup MANE Select | ENSP00000320509.4:n.71-10935_71-10918dup | |
| ENST00000322953.8:c.71-10935_71-10918dup | ENSP00000320509.4:n.71-10935_71-10918dup | |
| ENST00000428908.5:c.70+27923_70+27940dup | ENSP00000412748.1:n.70+27923_70+27940dup | |
| ENST00000444316.2:c.-21+4935_-21+4952dup | ENSP00000388817.2:n.-21+4935_-21+4952dup | |
| ENST00000504592.5:c.26-10935_26-10918dup | ENSP00000421443.1:n.26-10935_26-10918dup | |
| ENST00000508653.5:c.70+27923_70+27940dup | ENSP00000422314.1:n.70+27923_70+27940dup | |
| NM_001083907.2:c.-21+4935_-21+4952dup | NP_001077376.2:n.-21+4935_-21+4952dup | |
| NM_001127507.2:c.70+27923_70+27940dup | NP_001120979.2:n.70+27923_70+27940dup | |
| NM_017935.4:c.71-10935_71-10918dup | NP_060405.4:n.71-10935_71-10918dup | |
| XM_017008337.2:c.-20-10935_-20-10918dup | XP_016863826.1:n.-20-10935_-20-10918dup | |
| NM_017935.5:c.71-10935_71-10918dup MANE Select | NP_060405.5:n.71-10935_71-10918dup | |
| NM_001083907.3:c.-21+4935_-21+4952dup | NP_001077376.3:n.-21+4935_-21+4952dup | |
| NM_001127507.3:c.70+27923_70+27940dup | NP_001120979.3:n.70+27923_70+27940dup |