Linked Data
ClinVar Variation Id:
2101576
ClinVar RCV Id:
RCV003016979
dbSNP Id:
rs1263195991
gnomAD v2:
15-28235734-A-AGCCAGTGCT
gnomAD v4:
15-27990588-A-AGCCAGTGCT
MyVariant Identifiers:
chr15:g.28235734_28235735insGCCAGTGCT (hg19)
chr15:g.27990588_27990589insGCCAGTGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27990600_27990608dup , CM000677.2:g.27990600_27990608dup | GRCh38 |
| NC_000015.9:g.28235746_28235754dup , CM000677.1:g.28235746_28235754dup | GRCh37 |
| NC_000015.8:g.25909341_25909349dup | NCBI36 |
| NG_009846.1:g.113716_113724dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.1095_1103dup MANE Select | ENSP00000346659.3:p.Ala368_Val369insAlaLeuAla | |
| ENST00000353809.9:c.1045-931_1045-923dup | ENSP00000261276.8:n.1045-931_1045-923dup | |
| ENST00000354638.7:c.1095_1103dup | ENSP00000346659.3:p.Ala368_Val369insAlaLeuAla | |
| NM_000275.2:c.1095_1103dup | NP_000266.2:p.Ala368_Val369insAlaLeuAla | |
| NM_001300984.1:c.1045-931_1045-923dup | NP_001287913.1:n.1045-931_1045-923dup | |
| XM_011521639.1:c.1119_1127dup | XP_011519941.1:p.Ala376_Val377insAlaLeuAla | |
| XM_011521640.1:c.1095_1103dup | XP_011519942.1:p.Ala368_Val369insAlaLeuAla | |
| XM_011521641.1:c.1119_1127dup | XP_011519943.1:p.Ala376_Val377insAlaLeuAla | |
| XM_011521642.1:c.1069-931_1069-923dup | XP_011519944.1:n.1069-931_1069-923dup | |
| XM_011521643.1:c.1069-931_1069-923dup | XP_011519945.1:n.1069-931_1069-923dup | |
| XM_011521644.1:c.1069-3954_1069-3946dup | XP_011519946.1:n.1069-3954_1069-3946dup | |
| XM_011521645.1:c.1119_1127dup | XP_011519947.1:p.Ala376_Val377insAlaLeuAla | |
| XM_011521646.1:c.1119_1127dup | XP_011519948.1:p.Ala376_Val377insAlaLeuAla | |
| XM_011521647.1:c.1119_1127dup | XP_011519949.1:p.Ala376_Val377insAlaLeuAla | |
| XR_931843.1:n.2480_2488dup | ||
| XM_011521640.2:c.1095_1103dup | XP_011519942.1:p.Ala368_Val369insAlaLeuAla | |
| XM_017022255.1:c.1119_1127dup | XP_016877744.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022256.1:c.1119_1127dup | XP_016877745.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022257.1:c.1069-931_1069-923dup | XP_016877746.1:n.1069-931_1069-923dup | |
| XM_017022258.1:c.1119_1127dup | XP_016877747.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022259.1:c.1069-931_1069-923dup | XP_016877748.1:n.1069-931_1069-923dup | |
| XM_017022260.1:c.1069-3954_1069-3946dup | XP_016877749.1:n.1069-3954_1069-3946dup | |
| XM_017022261.1:c.924_932dup | XP_016877750.1:p.Ala311_Val312insAlaLeuAla | |
| XM_017022262.1:c.1119_1127dup | XP_016877751.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022263.1:c.1119_1127dup | XP_016877752.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022264.1:c.1119_1127dup | XP_016877753.1:p.Ala376_Val377insAlaLeuAla | |
| XM_017022265.1:c.1119_1127dup | XP_016877754.1:p.Ala376_Val377insAlaLeuAla | |
| XR_001751294.1:n.1208_1216dup | ||
| NM_000275.3:c.1095_1103dup MANE Select | NP_000266.2:p.Ala368_Val369insAlaLeuAla | |
| NM_001300984.2:c.1045-931_1045-923dup | NP_001287913.1:n.1045-931_1045-923dup |