Linked Data
ClinVar Variation Id:
2841
ClinVar RCV Id:
RCV000002975
dbSNP Id:
rs387906282
gnomAD v2:
11-108016953-AAAG-A
gnomAD v3:
11-108146226-AAAG-A
gnomAD v4:
11-108146226-AAAG-A
MyVariant Identifiers:
chr11:g.108016956_108016958del (hg19)
chr11:g.108016954_108016956del (hg19)
chr11:g.108146229_108146231del (hg38)
chr11:g.108146227_108146229del (hg38)
PubMed:
PMID:9700610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108146231_108146233del , CM000673.2:g.108146231_108146233del | GRCh38 |
| NC_000011.9:g.108016958_108016960del , CM000673.1:g.108016958_108016960del | GRCh37 |
| NC_000011.8:g.107522168_107522170del | NCBI36 |
| NG_009888.1:g.29701_29703del | |
| NG_009888.2:g.34527_34529del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265838.9:c.1035_1037del MANE Select | ENSP00000265838.4:p.Glu345del | |
| ENST00000671707.1:n.1130_1132del | ||
| ENST00000672031.1:c.*22_*24del | ENSP00000500463.1:n.*22_*24del | |
| ENST00000672284.1:c.765_767del | ENSP00000500444.1:p.Glu255del | |
| ENST00000672354.1:c.1035_1037del | ENSP00000500490.1:p.Glu345del | |
| ENST00000672367.1:c.672_674del | ENSP00000500209.1:p.Glu224del | |
| ENST00000672580.1:c.*290_*292del | ENSP00000500366.1:n.*290_*292del | |
| ENST00000672907.1:c.720_722del | ENSP00000500928.1:p.Glu240del | |
| ENST00000673000.1:n.1123_1125del | ||
| ENST00000673531.1:c.765_767del | ENSP00000500163.1:p.Glu255del | |
| ENST00000265838.8:c.1035_1037del | ENSP00000265838.4:p.Glu345del | |
| ENST00000533597.1:n.111_113del | ||
| NM_000019.3:c.1035_1037del | NP_000010.1:p.Glu345del | |
| XM_006718834.2:c.765_767del | XP_006718897.1:p.Glu255del | |
| XM_006718835.2:c.765_767del | XP_006718898.1:p.Glu255del | |
| XM_006718835.3:c.765_767del | XP_006718898.1:p.Glu255del | |
| XM_017017681.1:c.765_767del | XP_016873170.1:p.Glu255del | |
| XM_017017682.2:c.657_659del | XP_016873171.1:p.Glu219del | |
| XM_017017683.2:c.657_659del | XP_016873172.1:p.Glu219del | |
| XM_024448511.1:c.765_767del | XP_024304279.1:p.Glu255del | |
| XM_024448512.1:c.765_767del | XP_024304280.1:p.Glu255del | |
| XM_024448513.1:c.765_767del | XP_024304281.1:p.Glu255del | |
| XM_024448514.1:c.765_767del | XP_024304282.1:p.Glu255del | |
| XM_024448515.1:c.765_767del | XP_024304283.1:p.Glu255del | |
| NM_000019.4:c.1035_1037del MANE Select | NP_000010.1:p.Glu345del | |
| NM_001386677.1:c.1035_1037del | NP_001373606.1:p.Glu345del | |
| NM_001386678.1:c.720_722del | NP_001373607.1:p.Glu240del | |
| NM_001386679.1:c.738_740del | NP_001373608.1:p.Glu246del | |
| NM_001386681.1:c.765_767del | NP_001373610.1:p.Glu255del | |
| NM_001386682.1:c.765_767del | NP_001373611.1:p.Glu255del | |
| NM_001386685.1:c.765_767del | NP_001373614.1:p.Glu255del | |
| NM_001386686.1:c.765_767del | NP_001373615.1:p.Glu255del | |
| NM_001386687.1:c.765_767del | NP_001373616.1:p.Glu255del | |
| NM_001386688.1:c.765_767del | NP_001373617.1:p.Glu255del | |
| NM_001386689.1:c.765_767del | NP_001373618.1:p.Glu255del | |
| NM_001386690.1:c.765_767del | NP_001373619.1:p.Glu255del | |
| NM_001386691.1:c.765_767del | NP_001373620.1:p.Glu255del | |
| NR_170162.1:n.1010_1012del | ||
| NR_170163.1:n.1068_1070del |