Linked Data
ClinVar Variation Id:
2911664
ClinVar RCV Id:
RCV003642834
dbSNP Id:
rs1440801879
gnomAD v2:
3-52437240-CCTT-C
gnomAD v3:
3-52403224-CCTT-C
gnomAD v4:
3-52403224-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403227_52403229del , CM000665.2:g.52403227_52403229del | GRCh38 |
| NC_000003.11:g.52437243_52437245del , CM000665.1:g.52437243_52437245del | GRCh37 |
| NC_000003.10:g.52412283_52412285del | NCBI36 |
| NG_031859.1:g.11767_11769del , LRG_529:g.11767_11769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1801_1803del MANE Select | ENSP00000417132.1:p.Lys601del | |
| ENST00000296288.9:c.1747_1749del | ENSP00000296288.5:p.Lys583del | |
| ENST00000460680.5:c.1801_1803del | ENSP00000417132.1:p.Lys601del | |
| ENST00000466093.1:n.208_210del | ||
| ENST00000469613.5:c.120-386_120-384del | ||
| ENST00000478368.1:c.304_306del | ENSP00000420647.1:p.Lys102del | |
| NM_004656.3:c.1801_1803del | NP_004647.1:p.Lys601del | |
| XM_011534149.1:c.1801_1803del | XP_011532451.1:p.Lys601del | |
| XM_011534150.1:c.1801_1803del | XP_011532452.1:p.Lys601del | |
| XM_011534151.1:c.1747_1749del | XP_011532453.1:p.Lys583del | |
| XM_011534152.1:c.1801_1803del | XP_011532454.1:p.Lys601del | |
| XM_011534149.3:c.1801_1803del | XP_011532451.1:p.Lys601del | |
| XM_011534150.3:c.1801_1803del | XP_011532452.1:p.Lys601del | |
| XM_011534151.3:c.1747_1749del | XP_011532453.1:p.Lys583del | |
| XM_011534152.2:c.1801_1803del | XP_011532454.1:p.Lys601del | |
| XM_017007303.2:c.1747_1749del | XP_016862792.1:p.Lys583del | |
| NM_004656.4:c.1801_1803del MANE Select | NP_004647.1:p.Lys601del |