Linked Data
dbSNP Id:
rs751154676
ExAC:
16:31202681 A / AAT
gnomAD v2:
16-31202681-A-AAT
gnomAD v4:
16-31191360-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191364_31191365dup , CM000678.2:g.31191364_31191365dup | GRCh38 |
| NC_000016.9:g.31202685_31202686dup , CM000678.1:g.31202685_31202686dup | GRCh37 |
| NC_000016.8:g.31110186_31110187dup | NCBI36 |
| NG_012889.2:g.16233_16234dup , LRG_655:g.16233_16234dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1542-35_1542-34dup MANE Select | ENSP00000254108.8:n.1542-35_1542-34dup | |
| ENST00000254108.11:c.1542-35_1542-34dup | ENSP00000254108.7:n.1542-35_1542-34dup | |
| ENST00000380244.7:c.1539-35_1539-34dup | ENSP00000369594.3:n.1539-35_1539-34dup | |
| ENST00000483853.1:n.619-35_619-34dup | ||
| ENST00000487509.6:n.4717-35_4717-34dup | ||
| ENST00000566605.5:c.*715-35_*715-34dup | ENSP00000455073.1:n.*715-35_*715-34dup | |
| ENST00000568685.1:c.1545-35_1545-34dup | ENSP00000455282.1:n.1545-35_1545-34dup | |
| ENST00000569760.5:n.433-35_433-34dup | ||
| NM_001170634.1:c.1539-35_1539-34dup | NP_001164105.1:n.1539-35_1539-34dup | |
| NM_001170937.1:c.1530-35_1530-34dup | NP_001164408.1:n.1530-35_1530-34dup | |
| NM_004960.3:c.1542-35_1542-34dup , LRG_655t1:c.1542-35_1542-34dup | NP_004951.1:n.1542-35_1542-34dup | |
| NR_028388.2:n.1612-35_1612-34dup | ||
| XM_005255233.3:c.927-35_927-34dup | XP_005255290.1:n.927-35_927-34dup | |
| XM_011545781.1:c.1536-35_1536-34dup | XP_011544083.1:n.1536-35_1536-34dup | |
| XM_011545782.1:c.927-35_927-34dup | XP_011544084.1:n.927-35_927-34dup | |
| XM_005255233.5:c.927-35_927-34dup | XP_005255290.1:n.927-35_927-34dup | |
| XM_011545782.2:c.927-35_927-34dup | XP_011544084.1:n.927-35_927-34dup | |
| XM_024450221.1:c.1533-35_1533-34dup | XP_024305989.1:n.1533-35_1533-34dup | |
| NM_004960.4:c.1542-35_1542-34dup MANE Select | NP_004951.1:n.1542-35_1542-34dup |