Linked Data
dbSNP Id:
rs1262499113
MyVariant Identifiers:
chr5:g.131706159_131706160insCTCCCC (hg19)
chr5:g.132370467_132370468insCTCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132370475_132370480dup , CM000667.2:g.132370475_132370480dup | GRCh38 |
| NC_000005.9:g.131706167_131706172dup , CM000667.1:g.131706167_131706172dup | GRCh37 |
| NC_000005.8:g.131734066_131734071dup | NCBI36 |
| NG_008982.1:g.5767_5772dup | |
| NG_008982.2:g.5772_5777dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.393+110_393+115dup | ENSP00000388838.2:n.393+110_393+115dup | |
| ENST00000435065.7:c.393+110_393+115dup | ENSP00000402760.2:n.393+110_393+115dup | |
| ENST00000448810.6:c.393+110_393+115dup | ENSP00000401860.2:n.393+110_393+115dup | |
| ENST00000686757.1:c.393+110_393+115dup | ENSP00000510721.1:n.393+110_393+115dup | |
| ENST00000687740.1:n.527+110_527+115dup | ||
| ENST00000689271.1:c.393+110_393+115dup | ENSP00000510797.1:n.393+110_393+115dup | |
| ENST00000690900.1:c.393+110_393+115dup | ENSP00000510703.1:n.393+110_393+115dup | |
| ENST00000692413.1:c.393+110_393+115dup | ENSP00000509374.1:n.393+110_393+115dup | |
| ENST00000692825.1:c.393+110_393+115dup | ENSP00000509447.1:n.393+110_393+115dup | |
| ENST00000693308.1:c.393+110_393+115dup | ENSP00000509770.1:n.393+110_393+115dup | |
| ENST00000693763.1:n.527+110_527+115dup | ||
| ENST00000245407.8:c.393+110_393+115dup MANE Select | ENSP00000245407.3:n.393+110_393+115dup | |
| ENST00000245407.7:c.393+110_393+115dup | ENSP00000245407.3:n.393+110_393+115dup | |
| ENST00000415928.5:c.90+110_90+115dup | ENSP00000388838.1:n.90+110_90+115dup | |
| ENST00000435065.6:c.393+110_393+115dup | ENSP00000402760.2:n.393+110_393+115dup | |
| ENST00000437841.6:c.393+110_393+115dup | ENSP00000400553.1:n.393+110_393+115dup | |
| NM_001308122.1:c.393+110_393+115dup | NP_001295051.1:n.393+110_393+115dup | |
| NM_003060.3:c.393+110_393+115dup | NP_003051.1:n.393+110_393+115dup | |
| XR_427718.1:n.662+110_662+115dup | ||
| XR_948290.1:n.662+110_662+115dup | ||
| XR_948291.1:n.662+110_662+115dup | ||
| XM_011543590.2:c.-239+110_-239+115dup | XP_011541892.1:n.-239+110_-239+115dup | |
| XM_017009778.2:c.-32+110_-32+115dup | XP_016865267.1:n.-32+110_-32+115dup | |
| XR_001742215.1:n.662+110_662+115dup | ||
| XR_001742216.1:n.662+110_662+115dup | ||
| XR_427718.2:n.662+110_662+115dup | ||
| XR_948290.2:n.662+110_662+115dup | ||
| XR_948291.2:n.662+110_662+115dup | ||
| NM_003060.4:c.393+110_393+115dup MANE Select | NP_003051.1:n.393+110_393+115dup | |
| NM_001308122.2:c.393+110_393+115dup | NP_001295051.1:n.393+110_393+115dup |