Linked Data
dbSNP Id:
rs1277078591
gnomAD v2:
19-18895947-A-AGCCCCC
gnomAD v3:
19-18785137-A-AGCCCCC
gnomAD v4:
19-18785137-A-AGCCCCC
MyVariant Identifiers:
chr19:g.18895947_18895948insGCCCCC (hg19)
chr19:g.18785137_18785138insGCCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785139_18785144dup , CM000681.2:g.18785139_18785144dup | GRCh38 |
| NC_000019.9:g.18895949_18895954dup , CM000681.1:g.18895949_18895954dup | GRCh37 |
| NC_000019.8:g.18756949_18756954dup | NCBI36 |
| NG_007070.1:g.11162_11167dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1718-51_1718-46dup MANE Select | ENSP00000222271.2:n.1718-51_1718-46dup | |
| ENST00000222271.6:c.1718-51_1718-46dup | ENSP00000222271.2:n.1718-51_1718-46dup | |
| ENST00000425807.1:c.1559-51_1559-46dup | ENSP00000403792.1:n.1559-51_1559-46dup | |
| ENST00000542601.6:c.1619-51_1619-46dup | ENSP00000439156.2:n.1619-51_1619-46dup | |
| NM_000095.2:c.1718-51_1718-46dup | NP_000086.2:n.1718-51_1718-46dup | |
| NM_000095.3:c.1718-51_1718-46dup MANE Select | NP_000086.2:n.1718-51_1718-46dup |