Linked Data
dbSNP Id:
rs70937503
gnomAD v2:
4-102865179-T-TTGTGTG
gnomAD v3:
4-101944022-T-TTGTGTG
gnomAD v4:
4-101944022-T-TTGTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101944035_101944040dup , CM000666.2:g.101944035_101944040dup | GRCh38 |
| NC_000004.11:g.102865192_102865197dup , CM000666.1:g.102865192_102865197dup | GRCh37 |
| NC_000004.10:g.103084215_103084220dup | NCBI36 |
| NG_015824.1:g.158429_158434dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322953.9:c.1206+25846_1206+25851dup MANE Select | ENSP00000320509.4:n.1206+25846_1206+25851dup | |
| ENST00000322953.8:c.1206+25846_1206+25851dup | ENSP00000320509.4:n.1206+25846_1206+25851dup | |
| ENST00000428908.5:c.807+25846_807+25851dup | ENSP00000412748.1:n.807+25846_807+25851dup | |
| ENST00000444316.2:c.1116+25846_1116+25851dup | ENSP00000388817.2:n.1116+25846_1116+25851dup | |
| ENST00000504592.5:c.1161+25846_1161+25851dup | ENSP00000421443.1:n.1161+25846_1161+25851dup | |
| ENST00000508653.5:c.807+25846_807+25851dup | ENSP00000422314.1:n.807+25846_807+25851dup | |
| NM_001083907.2:c.1116+25846_1116+25851dup | NP_001077376.2:n.1116+25846_1116+25851dup | |
| NM_001127507.2:c.807+25846_807+25851dup | NP_001120979.2:n.807+25846_807+25851dup | |
| NM_017935.4:c.1206+25846_1206+25851dup | NP_060405.4:n.1206+25846_1206+25851dup | |
| XM_017008337.2:c.1116+25846_1116+25851dup | XP_016863826.1:n.1116+25846_1116+25851dup | |
| NM_017935.5:c.1206+25846_1206+25851dup MANE Select | NP_060405.5:n.1206+25846_1206+25851dup | |
| NM_001083907.3:c.1116+25846_1116+25851dup | NP_001077376.3:n.1116+25846_1116+25851dup | |
| NM_001127507.3:c.807+25846_807+25851dup | NP_001120979.3:n.807+25846_807+25851dup |