Linked Data
dbSNP Id:
rs1402747409
gnomAD v2:
4-187201228-A-AAG
gnomAD v3:
4-186280074-A-AAG
gnomAD v4:
4-186280074-A-AAG
MyVariant Identifiers:
chr4:g.187201228_187201229insAG (hg19)
chr4:g.186280074_186280075insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280075_186280076dup , CM000666.2:g.186280075_186280076dup | GRCh38 |
| NC_000004.11:g.187201229_187201230dup , CM000666.1:g.187201229_187201230dup | GRCh37 |
| NC_000004.10:g.187438223_187438224dup | NCBI36 |
| NG_008051.1:g.19112_19113dup , LRG_583:g.19112_19113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.819_820dup MANE Select | ENSP00000384957.2:p.Ala274GlufsTer? | |
| ENST00000264692.8:c.657_658dup | ENSP00000264692.5:p.Ala220GlufsTer? | |
| ENST00000403665.6:c.819_820dup | ENSP00000384957.2:p.Ala274GlufsTer? | |
| ENST00000452239.1:c.266_267dup | ||
| NM_000128.3:c.819_820dup , LRG_583t1:c.819_820dup | NP_000119.1:p.Ala274GlufsTer? | |
| XM_005262821.2:c.819_820dup | XP_005262878.1:p.Ala274GlufsTer? | |
| XM_005262822.2:c.819_820dup | XP_005262879.1:p.Ala274GlufsTer? | |
| XM_005262823.2:c.549_550dup | XP_005262880.1:p.Ala184GlufsTer? | |
| XM_005262824.1:c.819_820dup | XP_005262881.1:p.Ala274GlufsTer? | |
| XM_006714137.1:c.819_820dup | XP_006714200.1:p.Ala274GlufsTer? | |
| XR_938706.1:n.1171_1172dup | ||
| XR_938707.1:n.1171_1172dup | ||
| XM_005262821.4:c.819_820dup | XP_005262878.1:p.Ala274GlufsTer? | |
| XM_005262822.4:c.819_820dup | XP_005262879.1:p.Ala274GlufsTer? | |
| XM_005262823.4:c.549_550dup | XP_005262880.1:p.Ala184GlufsTer? | |
| XM_006714137.3:c.819_820dup | XP_006714200.1:p.Ala274GlufsTer? | |
| XM_017007884.2:c.819_820dup | XP_016863373.1:p.Ala274GlufsTer? | |
| XM_017007885.2:c.819_820dup | XP_016863374.1:p.Ala274GlufsTer? | |
| XM_017007886.2:c.819_820dup | XP_016863375.1:p.Ala274GlufsTer? | |
| XR_001741172.2:n.1152_1153dup | ||
| NM_000128.4:c.819_820dup MANE Select | NP_000119.1:p.Ala274GlufsTer? |