Linked Data
ClinVar Variation Id:
39481
dbSNP Id:
rs797044470
gnomAD v3:
11-72225070-CGGCCGCGGAGGAGCTGCTGGCCCGGGCG-C
gnomAD v4:
11-72225070-CGGCCGCGGAGGAGCTGCTGGCCCGGGCG-C
MyVariant Identifiers:
chr11:g.71936122_71936149del (hg19)
chr11:g.71936115_71936142del (hg19)
chr11:g.72225078_72225105del (hg38)
chr11:g.72225071_72225098del (hg38)
PubMed:
PMID:23273569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225078_72225105del , CM000673.2:g.72225078_72225105del | GRCh38 |
| NC_000011.9:g.71936122_71936149del , CM000673.1:g.71936122_71936149del | GRCh37 |
| NC_000011.8:g.71613770_71613797del | NCBI36 |
| NG_023253.1:g.5241_5268del | |
| NG_023253.2:g.5241_5268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.94_121del MANE Select | ENSP00000298229.2:p.Glu32MetfsTer? | |
| ENST00000298229.6:c.94_121del | ENSP00000298229.2:p.Glu32MetfsTer? | |
| ENST00000541544.1:n.10_37del | ||
| NM_001567.3:c.94_121del | NP_001558.3:p.Glu32MetfsTer? | |
| XM_005273978.3:c.94_121del | XP_005274035.1:p.Glu32MetfsTer? | |
| XM_005273979.3:c.94_121del | XP_005274036.1:p.Glu32MetfsTer? | |
| XM_011544999.1:c.94_121del | XP_011543301.1:p.Glu32MetfsTer? | |
| XM_011545000.1:c.94_121del | XP_011543302.1:p.Glu32MetfsTer? | |
| XM_005273979.4:c.94_121del | XP_005274036.1:p.Glu32MetfsTer? | |
| XM_011544999.2:c.94_121del | XP_011543301.1:p.Glu32MetfsTer? | |
| XM_024448501.1:c.94_121del | XP_024304269.1:p.Glu32MetfsTer? | |
| XM_024448502.1:c.94_121del | XP_024304270.1:p.Glu32MetfsTer? | |
| XM_024448503.1:c.-28_-1del | XP_024304271.1:n.-28_-1del | |
| XM_024448504.1:c.94_121del | XP_024304272.1:p.Glu32MetfsTer? | |
| XM_024448505.1:c.94_121del | XP_024304273.1:p.Glu32MetfsTer? | |
| NM_001567.4:c.94_121del MANE Select | NP_001558.3:p.Glu32MetfsTer? |