Linked Data
dbSNP Id:
rs993372680
gnomAD v2:
19-39738315-GGA-G
gnomAD v3:
19-39247675-GGA-G
gnomAD v4:
19-39247675-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247679_39247680del , CM000681.2:g.39247679_39247680del | GRCh38 |
| NC_000019.9:g.39738319_39738320del , CM000681.1:g.39738319_39738320del | GRCh37 |
| NC_000019.8:g.44430159_44430160del | NCBI36 |
| NG_042193.1:g.2295_2296del | |
| NG_055295.1:g.6180_6181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+31_367+32del | ENSP00000476098.1:n.367+31_367+32del | |
| ENST00000610963.1:c.366+31_366+32del | ENSP00000481371.1:n.366+31_366+32del | |
| ENST00000616270.4:c.224-11_224-10del | ENSP00000480679.1:n.224-11_224-10del | |
| ENST00000634680.1:c.152-214_152-213del | ENSP00000489240.1:n.152-214_152-213del | |
| ENST00000634967.1:c.224-214_224-213del | ENSP00000489559.1:n.224-214_224-213del | |
| NR_074079.1:n.644+31_644+32del |