Linked Data
dbSNP Id:
rs773274176
ExAC:
4:81123468 C / CAGCGGT
gnomAD v2:
4-81123468-C-CAGCGGT
gnomAD v3:
4-80202314-C-CAGCGGT
gnomAD v4:
4-80202314-C-CAGCGGT
MyVariant Identifiers:
chr4:g.81123468_81123469insAGCGGT (hg19)
chr4:g.80202314_80202315insAGCGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202320_80202325dup , CM000666.2:g.80202320_80202325dup | GRCh38 |
| NC_000004.11:g.81123474_81123479dup , CM000666.1:g.81123474_81123479dup | GRCh37 |
| NC_000004.10:g.81342498_81342503dup | NCBI36 |
| NG_046725.1:g.22051_22056dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.858_863dup MANE Select | ENSP00000406998.2:p.Gly288_Ser289insSerGly | |
| ENST00000339711.8:c.858_863dup | ENSP00000339764.4:p.Gly288_Ser289insSerGly | |
| ENST00000415738.2:c.858_863dup | ENSP00000406998.2:p.Gly288_Ser289insSerGly | |
| ENST00000504452.5:c.858_863dup | ENSP00000423985.1:p.Gly288_Ser289insSerGly | |
| ENST00000515013.5:c.858_863dup | ENSP00000425149.1:p.Gly288_Ser289insSerGly | |
| NM_001099403.1:c.858_863dup | NP_001092873.1:p.Gly288_Ser289insSerGly | |
| NM_020226.3:c.858_863dup | NP_064611.3:p.Gly288_Ser289insSerGly | |
| XM_005263144.2:c.861_866dup | XP_005263201.1:p.Gly289_Ser290insSerGly | |
| XM_005263145.2:c.861_866dup | XP_005263202.1:p.Gly289_Ser290insSerGly | |
| XM_005263146.3:c.858_863dup | XP_005263203.1:p.Gly288_Ser289insSerGly | |
| XM_011532133.1:c.1701_1706dup | XP_011530435.1:p.Gly569_Ser570insSerGly | |
| XM_011532134.1:c.1698_1703dup | XP_011530436.1:p.Gly568_Ser569insSerGly | |
| XM_011532135.1:c.1560_1565dup | XP_011530437.1:p.Gly522_Ser523insSerGly | |
| XM_011532136.1:c.1413_1418dup | XP_011530438.1:p.Gly473_Ser474insSerGly | |
| XM_011532137.1:c.1413_1418dup | XP_011530439.1:p.Gly473_Ser474insSerGly | |
| XM_011532138.1:c.1413_1418dup | XP_011530440.1:p.Gly473_Ser474insSerGly | |
| XM_011532139.1:c.1413_1418dup | XP_011530441.1:p.Gly473_Ser474insSerGly | |
| XM_011532140.1:c.1413_1418dup | XP_011530442.1:p.Gly473_Ser474insSerGly | |
| XM_011532141.1:c.1275_1280dup | XP_011530443.1:p.Gly427_Ser428insSerGly | |
| XM_011532142.1:c.1254_1259dup | XP_011530444.1:p.Gly420_Ser421insSerGly | |
| XM_005263146.4:c.858_863dup | XP_005263203.1:p.Gly288_Ser289insSerGly | |
| XM_011532133.2:c.1701_1706dup | XP_011530435.1:p.Gly569_Ser570insSerGly | |
| XM_011532135.2:c.1560_1565dup | XP_011530437.1:p.Gly522_Ser523insSerGly | |
| XM_011532140.2:c.1413_1418dup | XP_011530442.1:p.Gly473_Ser474insSerGly | |
| XM_011532141.3:c.1275_1280dup | XP_011530443.1:p.Gly427_Ser428insSerGly | |
| XM_017008468.1:c.1410_1415dup | XP_016863957.1:p.Gly472_Ser473insSerGly | |
| XM_017008469.1:c.1497_1502dup | XP_016863958.1:p.Gly501_Ser502insSerGly | |
| XM_017008470.1:c.1413_1418dup | XP_016863959.1:p.Gly473_Ser474insSerGly | |
| NM_001099403.2:c.858_863dup MANE Select | NP_001092873.1:p.Gly288_Ser289insSerGly | |
| NM_020226.4:c.858_863dup | NP_064611.3:p.Gly288_Ser289insSerGly |