Linked Data
dbSNP Id:
rs1555725199
gnomAD v2:
19-44280549-G-GCTCAT
gnomAD v4:
19-43776397-G-GCTCAT
MyVariant Identifiers:
chr19:g.44280549_44280550insCTCAT (hg19)
chr19:g.43776397_43776398insCTCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43776397_43776398insCTCAT , CM000681.2:g.43776397_43776398insCTCAT | GRCh38 |
| NC_000019.9:g.44280549_44280550insCTCAT , CM000681.1:g.44280549_44280550insCTCAT | GRCh37 |
| NC_000019.8:g.48972389_48972390insCTCAT | NCBI36 |
| NG_052672.1:g.10742_10743insATGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648319.1:c.255+143_255+144insATGAG MANE Select | ENSP00000496939.1:n.255+143_255+144insATGAG | |
| ENST00000262888.7:c.255+143_255+144insATGAG | ENSP00000262888.3:n.255+143_255+144insATGAG | |
| ENST00000599107.1:n.286+143_286+144insATGAG | ||
| ENST00000599720.5:c.160-4295_160-4294insATGAG | ENSP00000472513.1:n.160-4295_160-4294insATGAG | |
| ENST00000615047.4:c.70+143_70+144insATGAG | ENSP00000485014.1:n.70+143_70+144insATGAG | |
| NM_002250.2:c.255+143_255+144insATGAG | NP_002241.1:n.255+143_255+144insATGAG | |
| XM_005258882.2:c.160-1779_160-1778insATGAG | XP_005258939.1:n.160-1779_160-1778insATGAG | |
| XM_005258883.2:c.70+143_70+144insATGAG | XP_005258940.1:n.70+143_70+144insATGAG | |
| XM_011526938.1:c.255+143_255+144insATGAG | XP_011525240.1:n.255+143_255+144insATGAG | |
| XR_935823.1:n.1533+143_1533+144insATGAG | ||
| XR_002958313.1:n.1533+143_1533+144insATGAG | ||
| NM_002250.3:c.255+143_255+144insATGAG MANE Select | NP_002241.1:n.255+143_255+144insATGAG |