Linked Data
dbSNP Id:
rs1854894967
gnomAD v3:
11-67610585-A-ACGCCAGGGTT
gnomAD v4:
11-67610585-A-ACGCCAGGGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610585_67610586insCGCCAGGGTT , CM000673.2:g.67610585_67610586insCGCCAGGGTT | GRCh38 |
| NC_000011.9:g.67378056_67378057insCGCCAGGGTT , CM000673.1:g.67378056_67378057insCGCCAGGGTT | GRCh37 |
| NC_000011.8:g.67134632_67134633insCGCCAGGGTT | NCBI36 |
| NG_013353.1:g.8734_8735insCGCCAGGGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.700+15_700+16insCGCCAGGGTT MANE Select | ENSP00000322450.6:n.700+15_700+16insCGCCAGGGTT | |
| ENST00000647561.1:c.700+15_700+16insCGCCAGGGTT | ENSP00000497587.1:n.700+15_700+16insCGCCAGGGTT | |
| ENST00000322776.10:c.700+15_700+16insCGCCAGGGTT | ENSP00000322450.6:n.700+15_700+16insCGCCAGGGTT | |
| ENST00000415352.6:c.679+15_679+16insCGCCAGGGTT | ENSP00000395368.2:n.679+15_679+16insCGCCAGGGTT | |
| ENST00000526169.1:n.442+15_442+16insCGCCAGGGTT | ||
| ENST00000526770.5:n.574_575insCGCCAGGGTT | ||
| ENST00000529927.5:c.673+15_673+16insCGCCAGGGTT | ENSP00000436766.1:n.673+15_673+16insCGCCAGGGTT | |
| ENST00000532303.5:c.397+15_397+16insCGCCAGGGTT | ENSP00000432015.1:n.397+15_397+16insCGCCAGGGTT | |
| ENST00000533919.5:c.178+15_178+16insCGCCAGGGTT | ENSP00000435199.1:n.178+15_178+16insCGCCAGGGTT | |
| NM_001166102.1:c.673+15_673+16insCGCCAGGGTT | NP_001159574.1:n.673+15_673+16insCGCCAGGGTT | |
| NM_007103.3:c.700+15_700+16insCGCCAGGGTT | NP_009034.2:n.700+15_700+16insCGCCAGGGTT | |
| NM_001166102.2:c.673+15_673+16insCGCCAGGGTT | NP_001159574.1:n.673+15_673+16insCGCCAGGGTT | |
| NM_007103.4:c.700+15_700+16insCGCCAGGGTT MANE Select | NP_009034.2:n.700+15_700+16insCGCCAGGGTT |