Linked Data
dbSNP Id:
rs1784354145
gnomAD v3:
6-32164478-TTGACCCTACTGAGC-T
gnomAD v4:
6-32164478-TTGACCCTACTGAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32164486_32164499del , CM000668.2:g.32164486_32164499del | GRCh38 |
| NC_000006.11:g.32132263_32132276del , CM000668.1:g.32132263_32132276del | GRCh37 |
| NC_000006.10:g.32240241_32240254del | NCBI36 |
| NG_042283.1:g.16035_16048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421600.2:c.225-93_225-80del | ||
| ENST00000422437.5:c.766-93_766-80del | ENSP00000457534.1:n.766-93_766-80del | |
| ENST00000428388.6:c.766-93_766-80del | ENSP00000455087.1:n.766-93_766-80del | |
| ENST00000453656.6:n.897-93_897-80del | ||
| ENST00000479001.2:n.751-93_751-80del | ||
| ENST00000583227.5:c.*318-93_*318-80del | ENSP00000461909.1:n.*318-93_*318-80del | |
| ENST00000585246.5:c.*318-1652_*318-1639del | ENSP00000463570.1:n.*318-1652_*318-1639del | |
| NR_037861.1:n.1180-93_1180-80del |