Linked Data
dbSNP Id:
rs776853088
ExAC:
1:6172257 CCTT / C
gnomAD v2:
1-6172257-CCTT-C
gnomAD v3:
1-6112197-CCTT-C
gnomAD v4:
1-6112197-CCTT-C
MyVariant Identifiers:
chr1:g.6172258_6172260del (hg19)
chr1:g.6112199_6112201del (hg38)
chr1:g.6112198_6112200del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112202_6112204del , CM000663.2:g.6112202_6112204del | GRCh38 |
| NC_000001.10:g.6172262_6172264del , CM000663.1:g.6172262_6172264del | GRCh37 |
| NC_000001.9:g.6094849_6094851del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5080_5082del MANE Select | ENSP00000262450.3:p.Lys1694del | |
| ENST00000262450.7:c.5080_5082del | ENSP00000262450.3:p.Lys1694del | |
| ENST00000377999.5:c.1983_1985del | ENSP00000367238.2:n.1983_1985del | |
| ENST00000462991.5:c.3333_3335del | ||
| ENST00000496404.1:c.3798_3800del | ENSP00000433676.1:n.3798_3800del | |
| NM_015557.2:c.5080_5082del | NP_056372.1:p.Lys1694del | |
| NM_015557.3:c.5080_5082del MANE Select | NP_056372.1:p.Lys1694del |