Linked Data
dbSNP Id:
rs777366304
ExAC:
4:102750948 A / AT
gnomAD v2:
4-102750948-A-AT
gnomAD v3:
4-101829791-A-AT
gnomAD v4:
4-101829791-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101829797dup , CM000666.2:g.101829797dup | GRCh38 |
| NC_000004.11:g.102750954dup , CM000666.1:g.102750954dup | GRCh37 |
| NC_000004.10:g.102969977dup | NCBI36 |
| NG_015824.1:g.44191dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.71-11dup MANE Select | ENSP00000320509.4:n.71-11dup | |
| ENST00000322953.8:c.71-11dup | ENSP00000320509.4:n.71-11dup | |
| ENST00000428908.5:c.71-25238dup | ENSP00000412748.1:n.71-25238dup | |
| ENST00000444316.2:c.-20-11dup | ENSP00000388817.2:n.-20-11dup | |
| ENST00000504592.5:c.26-11dup | ENSP00000421443.1:n.26-11dup | |
| ENST00000508653.5:c.71-25238dup | ENSP00000422314.1:n.71-25238dup | |
| NM_001083907.2:c.-20-11dup | NP_001077376.2:n.-20-11dup | |
| NM_001127507.2:c.71-25238dup | NP_001120979.2:n.71-25238dup | |
| NM_017935.4:c.71-11dup | NP_060405.4:n.71-11dup | |
| XM_017008337.2:c.-20-11dup | XP_016863826.1:n.-20-11dup | |
| NM_017935.5:c.71-11dup MANE Select | NP_060405.5:n.71-11dup | |
| NM_001083907.3:c.-20-11dup | NP_001077376.3:n.-20-11dup | |
| NM_001127507.3:c.71-25238dup | NP_001120979.3:n.71-25238dup |