Linked Data
ClinVar Variation Id:
211746
ClinVar RCV Id:
RCV003231400
dbSNP Id:
rs797045833
MyVariant Identifiers:
chr5:g.176720910_176720912dupTCC (hg19)
chr5:g.177293909_177293911dupTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177293910_177293912dup , CM000667.2:g.177293910_177293912dup | GRCh38 |
| NC_000005.9:g.176720911_176720913dup , CM000667.1:g.176720911_176720913dup | GRCh37 |
| NC_000005.8:g.176653517_176653519dup | NCBI36 |
| NG_009821.1:g.165832_165834dup , LRG_512:g.165832_165834dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508896.7:c.5669_5671dup | ENSP00000423372.3:p.Ser1890_Phe1891insSer... | |
| ENST00000347982.9:c.5669_5671dup | ENSP00000343209.5:p.Ser1890_Phe1891insSer... | |
| ENST00000354179.9:c.5669_5671dup | ENSP00000346111.5:p.Ser1890_Phe1891insSer... | |
| ENST00000503056.6:c.1184_1186dup | ENSP00000424024.2:p.Ser395_Phe396insSer | |
| ENST00000508029.6:c.1184_1186dup | ENSP00000425120.2:p.Ser395_Phe396insSer | |
| ENST00000685206.1:n.6125_6127dup | ||
| ENST00000686385.1:n.958_960dup | ||
| ENST00000686993.1:c.5669_5671dup | ENSP00000510020.1:p.Ser1890_Phe1891insSer... | |
| ENST00000687453.1:c.6233_6235dup | ENSP00000508426.1:p.Ser2078_Phe2079insSer... | |
| ENST00000688613.1:n.5939_5941dup | ||
| ENST00000689345.1:c.5669_5671dup | ENSP00000509711.1:p.Ser1890_Phe1891insSer... | |
| ENST00000439151.7:c.6542_6544dup MANE Select | ENSP00000395929.2:p.Ser2181_Phe2182insSer... | |
| ENST00000347982.8:c.5735_5737dup | ENSP00000343209.4:p.Ser1912_Phe1913insSer... | |
| ENST00000354179.8:c.5735_5737dup | ENSP00000346111.4:p.Ser1912_Phe1913insSer... | |
| ENST00000439151.6:c.6542_6544dup | ENSP00000395929.2:p.Ser2181_Phe2182insSer... | |
| NM_022455.4:c.6542_6544dup , LRG_512t1:c.6542_6544dup | NP_071900.2:p.Ser2181_Phe2182insSer | |
| NM_172349.2:c.5735_5737dup | NP_758859.1:p.Ser1912_Phe1913insSer | |
| XM_005265959.1:c.6542_6544dup | XP_005266016.1:p.Ser2181_Phe2182insSer | |
| XM_005265960.1:c.5735_5737dup | XP_005266017.1:p.Ser1912_Phe1913insSer | |
| XM_005265961.1:c.5735_5737dup | XP_005266018.1:p.Ser1912_Phe1913insSer | |
| XM_005265962.3:c.2036_2038dup | XP_005266019.1:p.Ser679_Phe680insSer | |
| XM_011534610.1:c.6542_6544dup | XP_011532912.1:p.Ser2181_Phe2182insSer | |
| XM_011534611.1:c.6542_6544dup | XP_011532913.1:p.Ser2181_Phe2182insSer | |
| XM_011534612.1:c.6122_6124dup | XP_011532914.1:p.Ser2041_Phe2042insSer | |
| XM_011534613.1:c.5486_5488dup | XP_011532915.1:p.Ser1829_Phe1830insSer | |
| XM_011534617.1:c.2276_2278dup | XP_011532919.1:p.Ser759_Phe760insSer | |
| NM_001365684.1:c.5735_5737dup | NP_001352613.1:p.Ser1912_Phe1913insSer | |
| XM_024446150.1:c.6542_6544dup | XP_024301918.1:p.Ser2181_Phe2182insSer | |
| XM_024446151.1:c.6542_6544dup | XP_024301919.1:p.Ser2181_Phe2182insSer | |
| XM_024446152.1:c.6542_6544dup | XP_024301920.1:p.Ser2181_Phe2182insSer | |
| XM_024446153.1:c.6542_6544dup | XP_024301921.1:p.Ser2181_Phe2182insSer | |
| XM_024446154.1:c.6122_6124dup | XP_024301922.1:p.Ser2041_Phe2042insSer | |
| XM_024446155.1:c.5735_5737dup | XP_024301923.1:p.Ser1912_Phe1913insSer | |
| XM_024446156.1:c.5735_5737dup | XP_024301924.1:p.Ser1912_Phe1913insSer | |
| XM_024446158.1:c.5735_5737dup | XP_024301926.1:p.Ser1912_Phe1913insSer | |
| XM_024446159.1:c.5486_5488dup | XP_024301927.1:p.Ser1829_Phe1830insSer | |
| XM_024446162.1:c.2276_2278dup | XP_024301930.1:p.Ser759_Phe760insSer | |
| XM_024446163.1:c.2036_2038dup | XP_024301931.1:p.Ser679_Phe680insSer | |
| NM_022455.5:c.6542_6544dup MANE Select | NP_071900.2:p.Ser2181_Phe2182insSer | |
| NM_172349.3:c.5735_5737dup | NP_758859.1:p.Ser1912_Phe1913insSer |