Linked Data
ClinVar Variation Id:
10331
ClinVar RCV Id:
RCV000011044
dbSNP Id:
rs387906466
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837737_154837741del , CM000685.2:g.154837737_154837741del | GRCh38 |
| NC_000023.10:g.154066012_154066016del , CM000685.1:g.154066012_154066016del | GRCh37 |
| NC_000023.9:g.153719206_153719210del | NCBI36 |
| NG_011403.1:g.189985_189989del | |
| NG_033065.1:g.1924_1928del | |
| NG_011403.2:g.189985_189989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6914_6918del MANE Select | ENSP00000353393.4:p.Asn2305ArgfsTer? | |
| ENST00000644698.1:c.647_651del | ENSP00000495706.1:p.Asn216ArgfsTer? | |
| ENST00000330287.10:c.509_513del | ENSP00000327895.6:p.Asn170ArgfsTer? | |
| ENST00000360256.8:c.6914_6918del | ENSP00000353393.4:p.Asn2305ArgfsTer? | |
| NM_000132.3:c.6914_6918del | NP_000123.1:p.Asn2305ArgfsTer? | |
| NM_019863.2:c.509_513del | NP_063916.1:p.Asn170ArgfsTer? | |
| XM_011531126.1:c.6809_6813del | XP_011529428.1:p.Asn2270ArgfsTer? | |
| NM_000132.4:c.6914_6918del MANE Select | NP_000123.1:p.Asn2305ArgfsTer? | |
| NM_019863.3:c.509_513del | NP_063916.1:p.Asn170ArgfsTer? |