Linked Data
ClinVar Variation Id:
558267
ClinVar RCV Id:
RCV000674508
dbSNP Id:
rs1432024176
gnomAD v2:
1-100361931-T-TA
gnomAD v3:
1-99896375-T-TA
gnomAD v4:
1-99896375-T-TA
MyVariant Identifiers:
chr1:g.100361931_100361932insA (hg19)
chr1:g.99896376dup (hg38)
chr1:g.99896375_99896376insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99896376dup , CM000663.2:g.99896376dup | GRCh38 |
| NC_000001.10:g.100361932dup , CM000663.1:g.100361932dup | GRCh37 |
| NC_000001.9:g.100134520dup | NCBI36 |
| NG_012865.1:g.51293dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.3350dup MANE Select | ENSP00000355106.3:p.Tyr1117Ter | |
| ENST00000637337.1:n.3561dup | ||
| ENST00000294724.8:c.3350dup | ENSP00000294724.4:p.Tyr1117Ter | |
| ENST00000361302.7:c.3302dup | ENSP00000354971.3:p.Tyr1101Ter | |
| ENST00000361522.4:c.3299dup | ENSP00000354635.4:p.Tyr1100Ter | |
| ENST00000361915.7:c.3350dup | ENSP00000355106.3:p.Tyr1117Ter | |
| ENST00000370161.6:c.3302dup | ENSP00000359180.2:p.Tyr1101Ter | |
| ENST00000370163.7:c.3350dup | ENSP00000359182.3:p.Tyr1117Ter | |
| ENST00000370165.7:c.3350dup | ENSP00000359184.3:p.Tyr1117Ter | |
| NM_000028.2:c.3350dup | NP_000019.2:p.Tyr1117Ter | |
| NM_000642.2:c.3350dup | NP_000633.2:p.Tyr1117Ter | |
| NM_000643.2:c.3350dup | NP_000634.2:p.Tyr1117Ter | |
| NM_000644.2:c.3350dup | NP_000635.2:p.Tyr1117Ter | |
| NM_000645.2:c.3299dup | NP_000636.2:p.Tyr1100Ter | |
| NM_000646.2:c.3302dup | NP_000637.2:p.Tyr1101Ter | |
| XM_005270557.1:c.3350dup | XP_005270614.1:p.Tyr1117Ter | |
| XM_005270557.2:c.3350dup | XP_005270614.1:p.Tyr1117Ter | |
| XM_017000501.2:c.1610dup | XP_016855990.1:p.Tyr537Ter | |
| NM_000642.3:c.3350dup MANE Select | NP_000633.2:p.Tyr1117Ter |