Linked Data
ClinVar Variation Id:
1505618
ClinVar RCV Id:
RCV001999549
dbSNP Id:
rs771118168
gnomAD v2:
4-81123475-A-AGCGGCAGCGGCG
gnomAD v3:
4-80202321-A-AGCGGCAGCGGCG
gnomAD v4:
4-80202321-A-AGCGGCAGCGGCG
MyVariant Identifiers:
chr4:g.81123475_81123476insGCGGCAGCGGCG (hg19)
chr4:g.80202321_80202322insGCGGCAGCGGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202327_80202338dup , CM000666.2:g.80202327_80202338dup | GRCh38 |
| NC_000004.11:g.81123481_81123492dup , CM000666.1:g.81123481_81123492dup | GRCh37 |
| NC_000004.10:g.81342505_81342516dup | NCBI36 |
| NG_046725.1:g.22058_22069dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.865_876dup MANE Select | ENSP00000406998.2:p.Gly292_Gly293insSerGlyGlyGly | |
| ENST00000339711.8:c.865_876dup | ENSP00000339764.4:p.Gly292_Gly293insSerGlyGlyGly | |
| ENST00000415738.2:c.865_876dup | ENSP00000406998.2:p.Gly292_Gly293insSerGlyGlyGly | |
| ENST00000504452.5:c.865_876dup | ENSP00000423985.1:p.Gly292_Gly293insSerGlyGlyGly | |
| ENST00000515013.5:c.865_876dup | ENSP00000425149.1:p.Gly292_Gly293insSerGlyGlyGly | |
| NM_001099403.1:c.865_876dup | NP_001092873.1:p.Gly292_Gly293insSerGlyGlyGly | |
| NM_020226.3:c.865_876dup | NP_064611.3:p.Gly292_Gly293insSerGlyGlyGly | |
| XM_005263144.2:c.868_879dup | XP_005263201.1:p.Gly293_Gly294insSerGlyGlyGly | |
| XM_005263145.2:c.868_879dup | XP_005263202.1:p.Gly293_Gly294insSerGlyGlyGly | |
| XM_005263146.3:c.865_876dup | XP_005263203.1:p.Gly292_Gly293insSerGlyGlyGly | |
| XM_011532133.1:c.1708_1719dup | XP_011530435.1:p.Gly573_Gly574insSerGlyGlyGly | |
| XM_011532134.1:c.1705_1716dup | XP_011530436.1:p.Gly572_Gly573insSerGlyGlyGly | |
| XM_011532135.1:c.1567_1578dup | XP_011530437.1:p.Gly526_Gly527insSerGlyGlyGly | |
| XM_011532136.1:c.1420_1431dup | XP_011530438.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532137.1:c.1420_1431dup | XP_011530439.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532138.1:c.1420_1431dup | XP_011530440.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532139.1:c.1420_1431dup | XP_011530441.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532140.1:c.1420_1431dup | XP_011530442.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532141.1:c.1282_1293dup | XP_011530443.1:p.Gly431_Gly432insSerGlyGlyGly | |
| XM_011532142.1:c.1261_1272dup | XP_011530444.1:p.Gly424_Gly425insSerGlyGlyGly | |
| XM_005263146.4:c.865_876dup | XP_005263203.1:p.Gly292_Gly293insSerGlyGlyGly | |
| XM_011532133.2:c.1708_1719dup | XP_011530435.1:p.Gly573_Gly574insSerGlyGlyGly | |
| XM_011532135.2:c.1567_1578dup | XP_011530437.1:p.Gly526_Gly527insSerGlyGlyGly | |
| XM_011532140.2:c.1420_1431dup | XP_011530442.1:p.Gly477_Gly478insSerGlyGlyGly | |
| XM_011532141.3:c.1282_1293dup | XP_011530443.1:p.Gly431_Gly432insSerGlyGlyGly | |
| XM_017008468.1:c.1417_1428dup | XP_016863957.1:p.Gly476_Gly477insSerGlyGlyGly | |
| XM_017008469.1:c.1504_1515dup | XP_016863958.1:p.Gly505_Gly506insSerGlyGlyGly | |
| XM_017008470.1:c.1420_1431dup | XP_016863959.1:p.Gly477_Gly478insSerGlyGlyGly | |
| NM_001099403.2:c.865_876dup MANE Select | NP_001092873.1:p.Gly292_Gly293insSerGlyGlyGly | |
| NM_020226.4:c.865_876dup | NP_064611.3:p.Gly292_Gly293insSerGlyGlyGly |