Linked Data
dbSNP Id:
rs756300055
ExAC:
17:62022822 CTTG / C
gnomAD v2:
17-62022822-CTTG-C
gnomAD v4:
17-63945462-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945469_63945471del , CM000679.2:g.63945469_63945471del | GRCh38 |
| NC_000017.10:g.62022829_62022831del , CM000679.1:g.62022829_62022831del | GRCh37 |
| NC_000017.9:g.59376561_59376563del | NCBI36 |
| NG_011699.1:g.32454_32456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3615_3617del MANE Select | ENSP00000396320.1:p.Asn1205del | |
| ENST00000578147.5:c.3615_3617del | ENSP00000463963.1:p.Asn1205del | |
| NM_000334.4:c.3615_3617del MANE Select | NP_000325.4:p.Asn1205del | |
| XM_005257566.3:c.3615_3617del | XP_005257623.1:p.Asn1205del |