Linked Data
ClinVar Variation Id:
2860
ClinVar RCV Id:
RCV000002994
dbSNP Id:
rs387906285
ExAC:
2:215843155 AT / A
gnomAD v2:
2-215843155-AT-A
gnomAD v4:
2-214978431-AT-A
PubMed:
PMID:15756637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978438del , CM000664.2:g.214978438del | GRCh38 |
| NC_000002.11:g.215843162del , CM000664.1:g.215843162del | GRCh37 |
| NC_000002.10:g.215551407del | NCBI36 |
| NG_007074.1:g.164996del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.5012del MANE Select | ENSP00000272895.7:p.Asn1671IlefsTer4 | |
| ENST00000272895.11:c.5012del | ENSP00000272895.7:p.Asn1671IlefsTer4 | |
| ENST00000389661.4:c.4058del | ENSP00000374312.4:p.Asn1353IlefsTer4 | |
| NM_015657.3:c.4058del | NP_056472.2:p.Asn1353IlefsTer4 | |
| NM_173076.2:c.5012del | NP_775099.2:p.Asn1671IlefsTer4 | |
| NR_103740.1:n.5312del | ||
| XM_011510951.1:c.5021del | XP_011509253.1:p.Asn1674IlefsTer4 | |
| XM_011510952.1:c.5021del | XP_011509254.1:p.Asn1674IlefsTer4 | |
| XM_011510951.2:c.5021del | XP_011509253.1:p.Asn1674IlefsTer4 | |
| NM_173076.3:c.5012del MANE Select | NP_775099.2:p.Asn1671IlefsTer4 | |
| NR_103740.2:n.5510del | ||
| NM_015657.4:c.4058del | NP_056472.2:p.Asn1353IlefsTer4 |