Linked Data
dbSNP Id:
rs1967913348
gnomAD v3:
16-88856614-C-CGGGGCCTCCCCCCTTCCCCAA
gnomAD v4:
16-88856614-C-CGGGGCCTCCCCCCTTCCCCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88856626_88856646dup , CM000678.2:g.88856626_88856646dup | GRCh38 |
| NC_000016.9:g.88923034_88923054dup , CM000678.1:g.88923034_88923054dup | GRCh37 |
| NC_000016.8:g.87450535_87450555dup | NCBI36 |
| NG_008667.1:g.5332_5352dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.120+123_120+143dup (GALNS) MANE Select | ENSP00000268695.5:n.120+123_120+143dup | |
| ENST00000268695.9:c.120+123_120+143dup (GALNS) | ENSP00000268695.5:n.120+123_120+143dup | |
| ENST00000564365.5:c.-398+380_-398+400dup (TRAPPC2L) | ENSP00000455447.1:n.-398+380_-398+400dup | |
| ENST00000565364.1:n.85+123_85+143dup (GALNS) | ||
| ENST00000567525.5:c.69+123_69+143dup (GALNS) | ENSP00000454484.1:n.69+123_69+143dup | |
| ENST00000568311.1:c.120+123_120+143dup (GALNS) | ENSP00000455006.1:n.120+123_120+143dup | |
| ENST00000568613.5:c.69+123_69+143dup (GALNS) | ENSP00000457921.1:n.69+123_69+143dup | |
| ENST00000569433.1:c.120+123_120+143dup (GALNS) | ENSP00000456884.1:n.120+123_120+143dup | |
| NM_000512.4:c.120+123_120+143dup (GALNS) | NP_000503.1:n.120+123_120+143dup | |
| XM_005256301.2:c.120+123_120+143dup (GALNS) | XP_005256358.1:n.120+123_120+143dup | |
| XM_005256302.1:c.-33+123_-33+143dup (GALNS) | XP_005256359.1:n.-33+123_-33+143dup | |
| XM_011522982.1:c.-33+123_-33+143dup (GALNS) | XP_011521284.1:n.-33+123_-33+143dup | |
| XM_011522984.1:c.-33+123_-33+143dup (GALNS) | XP_011521286.1:n.-33+123_-33+143dup | |
| NM_001323543.1:c.-312+123_-312+143dup (GALNS) | NP_001310472.1:n.-312+123_-312+143dup | |
| NM_001323544.1:c.-33+123_-33+143dup (GALNS) | NP_001310473.1:n.-33+123_-33+143dup | |
| NR_134671.1:n.27+380_27+400dup (TRAPPC2L) | ||
| XM_005256301.3:c.120+123_120+143dup (GALNS) | XP_005256358.1:n.120+123_120+143dup | |
| XM_011522982.2:c.-33+123_-33+143dup (GALNS) | XP_011521284.1:n.-33+123_-33+143dup | |
| XM_017023113.1:c.-312+123_-312+143dup (GALNS) | XP_016878602.1:n.-312+123_-312+143dup | |
| NM_000512.5:c.120+123_120+143dup (GALNS) MANE Select | NP_000503.1:n.120+123_120+143dup | |
| NM_001323543.2:c.-312+123_-312+143dup (GALNS) | NP_001310472.1:n.-312+123_-312+143dup | |
| NM_001323544.2:c.-33+123_-33+143dup (GALNS) | NP_001310473.1:n.-33+123_-33+143dup | |
| NR_134671.2:n.27+380_27+400dup (TRAPPC2L) |