Linked Data
dbSNP Id:
rs1299159125
gnomAD v3:
3-38725282-C-CAGTG
gnomAD v4:
3-38725282-C-CAGTG
MyVariant Identifiers:
chr3:g.38766773_38766774insAGTG (hg19)
chr3:g.38725282_38725283insAGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725282_38725283insAGTG , CM000665.2:g.38725282_38725283insAGTG | GRCh38 |
| NC_000003.11:g.38766773_38766774insAGTG , CM000665.1:g.38766773_38766774insAGTG | GRCh37 |
| NC_000003.10:g.38741777_38741778insAGTG | NCBI36 |
| NG_031891.2:g.73728_73729insCACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3119_3120insCACT MANE Select | ENSP00000390600.2:p.Asp1041ThrfsTer16 | |
| ENST00000643924.1:c.3116_3117insCACT | ENSP00000495595.1:p.Asp1040ThrfsTer16 | |
| ENST00000655275.1:c.3143_3144insCACT | ENSP00000499510.1:p.Asp1049ThrfsTer16 | |
| ENST00000449082.2:c.3119_3120insCACT | ENSP00000390600.2:p.Asp1041ThrfsTer16 | |
| NM_001293306.2:c.3116_3117insCACT | NP_001280235.2:p.Asp1040ThrfsTer16 | |
| NM_001293307.2:c.2825_2826insCACT | NP_001280236.2:p.Asp943ThrfsTer16 | |
| NM_006514.3:c.3119_3120insCACT | NP_006505.3:p.Asp1041ThrfsTer16 | |
| XM_005265371.2:c.3128_3129insCACT | XP_005265428.1:p.Asp1044ThrfsTer16 | |
| XM_011533993.1:c.3125_3126insCACT | XP_011532295.1:p.Asp1043ThrfsTer16 | |
| XM_011533994.1:c.2834_2835insCACT | XP_011532296.1:p.Asp946ThrfsTer16 | |
| XM_005265371.3:c.3128_3129insCACT | XP_005265428.1:p.Asp1044ThrfsTer16 | |
| XM_011533993.2:c.3125_3126insCACT | XP_011532295.1:p.Asp1043ThrfsTer16 | |
| XM_011533994.2:c.2834_2835insCACT | XP_011532296.1:p.Asp946ThrfsTer16 | |
| NM_006514.4:c.3119_3120insCACT MANE Select | NP_006505.4:p.Asp1041ThrfsTer16 |