Linked Data
dbSNP Id:
rs1846089287
gnomAD v3:
11-2166343-C-CCTCGGGGCGCCGAG
gnomAD v4:
11-2166343-C-CCTCGGGGCGCCGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166345_2166358dup , CM000673.2:g.2166345_2166358dup | GRCh38 |
| NC_000011.9:g.2187575_2187588dup , CM000673.1:g.2187575_2187588dup | GRCh37 |
| NC_000011.8:g.2144151_2144164dup | NCBI36 |
| NG_008128.1:g.10449_10462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1047+123_1047+136dup MANE Select | ENSP00000325951.4:n.1047+123_1047+136dup | |
| ENST00000324155.8:c.*736+123_*736+136dup | ENSP00000325831.3:n.*736+123_*736+136dup | |
| ENST00000333684.9:c.765+123_765+136dup | ENSP00000328814.6:n.765+123_765+136dup | |
| ENST00000352909.7:c.1047+123_1047+136dup | ENSP00000325951.3:n.1047+123_1047+136dup | |
| ENST00000381168.7:c.*767+123_*767+136dup | ENSP00000370560.3:n.*767+123_*767+136dup | |
| ENST00000381175.5:c.1128+123_1128+136dup | ENSP00000370567.1:n.1128+123_1128+136dup | |
| ENST00000381178.5:c.1140+123_1140+136dup | ENSP00000370571.1:n.1140+123_1140+136dup | |
| ENST00000412076.1:c.205+123_205+136dup | ||
| ENST00000416223.5:c.341+123_341+136dup | ||
| ENST00000461172.1:n.335_348dup | ||
| ENST00000479437.5:n.596+123_596+136dup | ||
| NM_000360.3:c.1047+123_1047+136dup | NP_000351.2:n.1047+123_1047+136dup | |
| NM_199292.2:c.1140+123_1140+136dup | NP_954986.2:n.1140+123_1140+136dup | |
| NM_199293.2:c.1128+123_1128+136dup | NP_954987.2:n.1128+123_1128+136dup | |
| XM_011520335.1:c.1059+123_1059+136dup | XP_011518637.1:n.1059+123_1059+136dup | |
| XM_011520335.2:c.1059+123_1059+136dup | XP_011518637.1:n.1059+123_1059+136dup | |
| NM_000360.4:c.1047+123_1047+136dup MANE Select | NP_000351.2:n.1047+123_1047+136dup | |
| NM_199292.3:c.1140+123_1140+136dup | NP_954986.2:n.1140+123_1140+136dup | |
| NM_199293.3:c.1128+123_1128+136dup | NP_954987.2:n.1128+123_1128+136dup |