Linked Data
ClinVar Variation Id:
2801004
ClinVar RCV Id:
RCV003624830
dbSNP Id:
rs1926527275
gnomAD v4:
X-101357602-TCATG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101357604_101357607del , CM000685.2:g.101357604_101357607del | GRCh38 |
| NC_000023.10:g.100612592_100612595del , CM000685.1:g.100612592_100612595del | GRCh37 |
| NC_000023.9:g.100499248_100499251del | NCBI36 |
| NG_009616.1:g.33619_33622del , LRG_128:g.33619_33622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1263-23_1263-20del | ||
| ENST00000488970.2:n.1261-23_1261-20del | ||
| ENST00000695614.1:c.1103-23_1103-20del | ENSP00000512053.1:n.1103-23_1103-20del | |
| ENST00000695615.1:c.1103-23_1103-20del | ENSP00000512054.1:n.1103-23_1103-20del | |
| ENST00000695616.1:c.*948-23_*948-20del | ENSP00000512055.1:n.*948-23_*948-20del | |
| ENST00000695617.1:c.1100-23_1100-20del | ENSP00000512056.1:n.1100-23_1100-20del | |
| ENST00000695618.1:c.*852-23_*852-20del | ENSP00000512058.1:n.*852-23_*852-20del | |
| ENST00000695619.1:c.*813-23_*813-20del | ENSP00000512059.1:n.*813-23_*813-20del | |
| ENST00000695620.1:c.*948-23_*948-20del | ENSP00000512060.1:n.*948-23_*948-20del | |
| ENST00000695621.1:c.1103-23_1103-20del | ENSP00000512061.1:n.1103-23_1103-20del | |
| ENST00000695622.1:c.1040-23_1040-20del | ENSP00000512062.1:n.1040-23_1040-20del | |
| ENST00000695623.1:c.1097-23_1097-20del | ENSP00000512063.1:n.1097-23_1097-20del | |
| ENST00000695624.1:n.408-23_408-20del | ||
| ENST00000695625.1:c.1103-23_1103-20del | ENSP00000512064.1:n.1103-23_1103-20del | |
| ENST00000695626.1:c.116-23_116-20del | ENSP00000512065.1:n.116-23_116-20del | |
| ENST00000695627.1:c.116-23_116-20del | ENSP00000512066.1:n.116-23_116-20del | |
| ENST00000695628.1:c.116-23_116-20del | ENSP00000512067.1:n.116-23_116-20del | |
| ENST00000695629.1:c.116-23_116-20del | ENSP00000512068.1:n.116-23_116-20del | |
| ENST00000695630.1:c.112-23_112-20del | ||
| ENST00000695631.1:c.114+704_114+707del | ||
| ENST00000695632.1:n.120-23_120-20del | ||
| ENST00000703407.1:c.1038+768_1038+771del | ENSP00000512057.1:n.1038+768_1038+771del | |
| ENST00000308731.8:c.1103-23_1103-20del MANE Select | ENSP00000308176.8:n.1103-23_1103-20del | |
| ENST00000308731.7:c.1103-23_1103-20del | ENSP00000308176.7:n.1103-23_1103-20del | |
| ENST00000372880.5:c.1038+768_1038+771del | ENSP00000361971.1:n.1038+768_1038+771del | |
| ENST00000470329.1:n.53-23_53-20del | ||
| ENST00000618050.4:c.1103-23_1103-20del | ENSP00000479125.1:n.1103-23_1103-20del | |
| ENST00000621635.4:c.1205-23_1205-20del | ENSP00000483570.1:n.1205-23_1205-20del | |
| NM_000061.2:c.1103-23_1103-20del , LRG_128t1:c.1103-23_1103-20del | NP_000052.1:n.1103-23_1103-20del | |
| NM_001287344.1:c.1205-23_1205-20del | NP_001274273.1:n.1205-23_1205-20del | |
| NM_001287345.1:c.1038+768_1038+771del | NP_001274274.1:n.1038+768_1038+771del | |
| NM_000061.3:c.1103-23_1103-20del MANE Select | NP_000052.1:n.1103-23_1103-20del | |
| NM_001287344.2:c.1205-23_1205-20del | NP_001274273.1:n.1205-23_1205-20del | |
| NM_001287345.2:c.1038+768_1038+771del | NP_001274274.1:n.1038+768_1038+771del |