Linked Data
dbSNP Id:
rs751682116
ExAC:
20:5948074 CTT / C
gnomAD v2:
20-5948074-CTT-C
gnomAD v3:
20-5967428-CTT-C
gnomAD v4:
20-5967428-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5967432_5967433del , CM000682.2:g.5967432_5967433del | GRCh38 |
| NC_000020.10:g.5948078_5948079del , CM000682.1:g.5948078_5948079del | GRCh37 |
| NC_000020.9:g.5896078_5896079del | NCBI36 |
| NG_042869.1:g.21781_21782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652720.1:c.876-4_876-3del | ENSP00000498784.1:n.876-4_876-3del | |
| ENST00000265187.4:c.876-4_876-3del | ENSP00000265187.4:n.876-4_876-3del | |
| ENST00000378883.5:c.876-4_876-3del | ENSP00000368161.1:n.876-4_876-3del | |
| ENST00000378886.6:c.876-4_876-3del | ENSP00000368164.2:n.876-4_876-3del | |
| ENST00000378896.7:c.876-4_876-3del | ENSP00000368174.3:n.876-4_876-3del | |
| ENST00000610722.4:c.876-4_876-3del MANE Select | ENSP00000478141.1:n.876-4_876-3del | |
| NM_001281520.1:c.876-4_876-3del | NP_001268449.1:n.876-4_876-3del | |
| NM_001281521.1:c.876-4_876-3del | NP_001268450.1:n.876-4_876-3del | |
| NM_001281522.1:c.876-4_876-3del | NP_001268451.1:n.876-4_876-3del | |
| NM_032485.5:c.876-4_876-3del | NP_115874.3:n.876-4_876-3del | |
| NM_182802.2:c.876-4_876-3del | NP_877954.1:n.876-4_876-3del | |
| XM_011529387.1:c.876-4_876-3del | XP_011527689.1:n.876-4_876-3del | |
| XR_937169.1:n.1216-4_1216-3del | ||
| XM_011529387.2:c.876-4_876-3del | XP_011527689.1:n.876-4_876-3del | |
| XM_017028105.1:c.876-4_876-3del | XP_016883594.1:n.876-4_876-3del | |
| XM_017028106.1:c.684-4_684-3del | XP_016883595.1:n.684-4_684-3del | |
| XM_017028107.1:c.27-4_27-3del | XP_016883596.1:n.27-4_27-3del | |
| XR_001754422.1:n.1216-4_1216-3del | ||
| XR_001754423.1:n.1216-4_1216-3del | ||
| NM_032485.6:c.876-4_876-3del MANE Select | NP_115874.3:n.876-4_876-3del | |
| NM_182802.3:c.876-4_876-3del | NP_877954.1:n.876-4_876-3del | |
| NM_001281520.2:c.876-4_876-3del | NP_001268449.1:n.876-4_876-3del | |
| NM_001281521.2:c.876-4_876-3del | NP_001268450.1:n.876-4_876-3del | |
| NM_001281522.2:c.876-4_876-3del | NP_001268451.1:n.876-4_876-3del |