Linked Data
dbSNP Id:
rs70937503
gnomAD v2:
4-102865179-TTG-T
gnomAD v3:
4-101944022-TTG-T
gnomAD v4:
4-101944022-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101944039_101944040del , CM000666.2:g.101944039_101944040del | GRCh38 |
| NC_000004.11:g.102865196_102865197del , CM000666.1:g.102865196_102865197del | GRCh37 |
| NC_000004.10:g.103084219_103084220del | NCBI36 |
| NG_015824.1:g.158433_158434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322953.9:c.1206+25850_1206+25851del MANE Select | ENSP00000320509.4:n.1206+25850_1206+25851del | |
| ENST00000322953.8:c.1206+25850_1206+25851del | ENSP00000320509.4:n.1206+25850_1206+25851del | |
| ENST00000428908.5:c.807+25850_807+25851del | ENSP00000412748.1:n.807+25850_807+25851del | |
| ENST00000444316.2:c.1116+25850_1116+25851del | ENSP00000388817.2:n.1116+25850_1116+25851del | |
| ENST00000504592.5:c.1161+25850_1161+25851del | ENSP00000421443.1:n.1161+25850_1161+25851del | |
| ENST00000508653.5:c.807+25850_807+25851del | ENSP00000422314.1:n.807+25850_807+25851del | |
| NM_001083907.2:c.1116+25850_1116+25851del | NP_001077376.2:n.1116+25850_1116+25851del | |
| NM_001127507.2:c.807+25850_807+25851del | NP_001120979.2:n.807+25850_807+25851del | |
| NM_017935.4:c.1206+25850_1206+25851del | NP_060405.4:n.1206+25850_1206+25851del | |
| XM_017008337.2:c.1116+25850_1116+25851del | XP_016863826.1:n.1116+25850_1116+25851del | |
| NM_017935.5:c.1206+25850_1206+25851del MANE Select | NP_060405.5:n.1206+25850_1206+25851del | |
| NM_001083907.3:c.1116+25850_1116+25851del | NP_001077376.3:n.1116+25850_1116+25851del | |
| NM_001127507.3:c.807+25850_807+25851del | NP_001120979.3:n.807+25850_807+25851del |