Linked Data
dbSNP Id:
rs1326481556
gnomAD v3:
3-111122375-T-TTCCCCACCTG
gnomAD v4:
3-111122375-T-TTCCCCACCTG
MyVariant Identifiers:
chr3:g.110841222_110841223insTCCCCACCTG (hg19)
chr3:g.111122375_111122376insTCCCCACCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.111122385_111122394dup , CM000665.2:g.111122385_111122394dup | GRCh38 |
| NC_000003.11:g.110841232_110841241dup , CM000665.1:g.110841232_110841241dup | GRCh37 |
| NC_000003.10:g.112323922_112323931dup | NCBI36 |
| NG_029835.1:g.55627_55636dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485303.6:c.917+147_917+156dup MANE Select | ENSP00000418070.1:n.917+147_917+156dup | |
| ENST00000319792.7:c.917+147_917+156dup | ENSP00000321514.3:n.917+147_917+156dup | |
| ENST00000485303.5:c.917+147_917+156dup | ENSP00000418070.1:n.917+147_917+156dup | |
| ENST00000486596.5:c.618+147_618+156dup | ||
| ENST00000493615.5:c.848+147_848+156dup | ENSP00000420579.1:n.848+147_848+156dup | |
| NM_001243286.1:c.917+147_917+156dup | NP_001230215.1:n.917+147_917+156dup | |
| NM_001243288.1:c.848+147_848+156dup | NP_001230217.1:n.848+147_848+156dup | |
| NM_015480.2:c.917+147_917+156dup | NP_056295.1:n.917+147_917+156dup | |
| XM_005247322.3:c.917+147_917+156dup | XP_005247379.2:n.917+147_917+156dup | |
| XM_011512662.1:c.1010+147_1010+156dup | XP_011510964.1:n.1010+147_1010+156dup | |
| XM_011512663.1:c.1010+147_1010+156dup | XP_011510965.1:n.1010+147_1010+156dup | |
| XM_011512664.1:c.848+147_848+156dup | XP_011510966.1:n.848+147_848+156dup | |
| XM_011512665.1:c.1010+147_1010+156dup | XP_011510967.1:n.1010+147_1010+156dup | |
| XM_011512666.1:c.1010+147_1010+156dup | XP_011510968.1:n.1010+147_1010+156dup | |
| XM_011512667.1:c.281+147_281+156dup | XP_011510969.1:n.281+147_281+156dup | |
| XR_924122.1:n.1240+147_1240+156dup | ||
| XM_017006123.1:c.1010+147_1010+156dup | XP_016861612.1:n.1010+147_1010+156dup | |
| XM_017006124.1:c.872+147_872+156dup | XP_016861613.1:n.872+147_872+156dup | |
| XM_017006125.1:c.848+147_848+156dup | XP_016861614.1:n.848+147_848+156dup | |
| XM_017006126.1:c.917+147_917+156dup | XP_016861615.1:n.917+147_917+156dup | |
| XM_017006127.2:c.281+147_281+156dup | XP_016861616.1:n.281+147_281+156dup | |
| XR_002959508.1:n.1198+147_1198+156dup | ||
| XR_924122.2:n.1240+147_1240+156dup | ||
| NM_015480.3:c.917+147_917+156dup MANE Select | NP_056295.1:n.917+147_917+156dup | |
| NM_001243286.2:c.917+147_917+156dup | NP_001230215.1:n.917+147_917+156dup | |
| NM_001243288.2:c.848+147_848+156dup | NP_001230217.1:n.848+147_848+156dup |