Linked Data
dbSNP Id:
rs1388808367
gnomAD v3:
19-6682094-A-AGAACC
gnomAD v4:
19-6682094-A-AGAACC
MyVariant Identifiers:
chr19:g.6682105_6682106insGAACC (hg19)
chr19:g.6682094_6682095insGAACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682095_6682099dup , CM000681.2:g.6682095_6682099dup | GRCh38 |
| NC_000019.9:g.6682106_6682110dup , CM000681.1:g.6682106_6682110dup | GRCh37 |
| NC_000019.8:g.6633106_6633110dup | NCBI36 |
| NG_009557.1:g.43553_43557dup , LRG_27:g.43553_43557dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2608+43_2608+47dup | ||
| ENST00000695653.1:c.2169+43_2169+47dup | ENSP00000512084.1:n.2169+43_2169+47dup | |
| ENST00000695654.1:c.3285+43_3285+47dup | ENSP00000512085.1:n.3285+43_3285+47dup | |
| ENST00000695689.1:c.231+43_231+47dup | ENSP00000512101.1:n.231+43_231+47dup | |
| ENST00000695690.1:n.451+43_451+47dup | ||
| ENST00000695691.1:n.451+43_451+47dup | ||
| ENST00000245907.11:c.4260+43_4260+47dup MANE Select | ENSP00000245907.4:n.4260+43_4260+47dup | |
| ENST00000245907.10:c.4260+43_4260+47dup | ENSP00000245907.4:n.4260+43_4260+47dup | |
| ENST00000596548.1:c.381+43_381+47dup | ENSP00000469744.1:n.381+43_381+47dup | |
| ENST00000599899.5:n.1219+43_1219+47dup | ||
| ENST00000601008.1:c.242-4141_242-4137dup | ENSP00000471384.1:n.242-4141_242-4137dup | |
| NM_000064.3:c.4260+43_4260+47dup | NP_000055.2:n.4260+43_4260+47dup | |
| NM_000064.4:c.4260+43_4260+47dup MANE Select | NP_000055.2:n.4260+43_4260+47dup |