Linked Data
dbSNP Id:
rs551574694
gnomAD v2:
2-175689001-CA-C
gnomAD v3:
2-174824273-CA-C
gnomAD v4:
2-174824273-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824276del , CM000664.2:g.174824276del | GRCh38 |
| NC_000002.11:g.175689004del , CM000664.1:g.175689004del | GRCh37 |
| NC_000002.10:g.175397250del | NCBI36 |
| NG_012642.1:g.186169del | |
| NG_012642.2:g.186169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.337+160del | ENSP00000295497.7:n.337+160del | |
| ENST00000444394.7:c.337+160del | ENSP00000411911.2:n.337+160del | |
| ENST00000295497.12:c.337+160del | ENSP00000295497.7:n.337+160del | |
| ENST00000409089.7:c.37+160del | ENSP00000386322.3:n.37+160del | |
| ENST00000409900.9:c.712+160del MANE Select | ENSP00000386741.4:n.712+160del | |
| ENST00000413882.6:c.166+160del | ENSP00000410496.2:n.166+160del | |
| ENST00000425395.6:c.*159+160del | ENSP00000405270.2:n.*159+160del | |
| ENST00000443238.6:c.190+160del | ENSP00000409798.2:n.190+160del | |
| ENST00000444394.6:c.337+160del | ENSP00000411911.2:n.337+160del | |
| ENST00000444573.2:c.556+160del | ENSP00000392603.2:n.556+160del | |
| ENST00000488080.6:n.355+160del | ||
| ENST00000650731.1:c.37+160del | ENSP00000499146.1:n.37+160del | |
| ENST00000650938.1:c.236+160del | ||
| ENST00000651246.1:c.304+160del | ENSP00000498484.1:n.304+160del | |
| ENST00000651373.1:c.226+160del | ENSP00000499174.1:n.226+160del | |
| ENST00000651501.1:c.*159+160del | ENSP00000498894.1:n.*159+160del | |
| ENST00000651717.1:c.253-11792del | ENSP00000499124.1:n.253-11792del | |
| ENST00000652036.1:c.337+160del | ENSP00000499139.1:n.337+160del | |
| ENST00000652154.1:n.610+160del | ||
| ENST00000295497.11:c.337+160del | ENSP00000295497.7:n.337+160del | |
| ENST00000409089.6:c.37+160del | ENSP00000386322.2:n.37+160del | |
| ENST00000409156.7:c.634+160del | ENSP00000386470.3:n.634+160del | |
| ENST00000409597.5:c.160+160del | ENSP00000386469.1:n.160+160del | |
| ENST00000409900.7:c.712+160del | ENSP00000386741.3:n.712+160del | |
| ENST00000413882.5:c.166+160del | ENSP00000410496.1:n.166+160del | |
| ENST00000425395.5:c.*263+160del | ENSP00000405270.1:n.*263+160del | |
| ENST00000443238.5:c.190+160del | ENSP00000409798.1:n.190+160del | |
| ENST00000444394.5:c.37+160del | ENSP00000411911.1:n.37+160del | |
| ENST00000444573.1:c.337+160del | ENSP00000392603.1:n.337+160del | |
| ENST00000485882.1:n.171+160del | ||
| ENST00000488080.5:n.563+160del | ||
| NM_001025201.3:c.634+160del | NP_001020372.2:n.634+160del | |
| NM_001206602.1:c.337+160del | NP_001193531.1:n.337+160del | |
| NM_001822.5:c.712+160del | NP_001813.1:n.712+160del | |
| NR_038133.1:n.578+160del | ||
| NM_001025201.4:c.634+160del | NP_001020372.2:n.634+160del | |
| NM_001206602.2:c.337+160del | NP_001193531.1:n.337+160del | |
| NM_001371513.1:c.712+160del | NP_001358442.1:n.712+160del | |
| NM_001371514.1:c.763+160del | NP_001358443.1:n.763+160del | |
| NM_001822.7:c.712+160del MANE Select | NP_001813.1:n.712+160del | |
| NR_038133.2:n.580+160del |