Linked Data
dbSNP Id:
rs764518645
gnomAD v2:
19-18898679-C-CTTTTTCTT
gnomAD v3:
19-18787870-C-CTTTTTCTT
gnomAD v4:
19-18787870-C-CTTTTTCTT
MyVariant Identifiers:
chr19:g.18898682_18898683insTTCTTTTT (hg19)
chr19:g.18898683_18898689delinsTTCTTTTTCTTTCTT (hg19)
chr19:g.18898679_18898680insTTTTTCTT (hg19)
chr19:g.18787873_18787874insTTCTTTTT (hg38)
chr19:g.18787874_18787880delinsTTCTTTTTCTTTCTT (hg38)
chr19:g.18787870_18787871insTTTTTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787873_18787874insTTCTTTTT , CM000681.2:g.18787873_18787874insTTCTTTTT | GRCh38 |
| NC_000019.9:g.18898682_18898683insTTCTTTTT , CM000681.1:g.18898682_18898683insTTCTTTTT | GRCh37 |
| NC_000019.8:g.18759682_18759683insTTCTTTTT | NCBI36 |
| NG_007070.1:g.8435_8436insAAGAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-221_976-220insAAGAAAAA MANE Select | ENSP00000222271.2:n.976-221_976-220insAAGAAAAA | |
| ENST00000222271.6:c.976-221_976-220insAAGAAAAA | ENSP00000222271.2:n.976-221_976-220insAAGAAAAA | |
| ENST00000425807.1:c.817-221_817-220insAAGAAAAA | ENSP00000403792.1:n.817-221_817-220insAAGAAAAA | |
| ENST00000542601.6:c.877-221_877-220insAAGAAAAA | ENSP00000439156.2:n.877-221_877-220insAAGAAAAA | |
| NM_000095.2:c.976-221_976-220insAAGAAAAA | NP_000086.2:n.976-221_976-220insAAGAAAAA | |
| NM_000095.3:c.976-221_976-220insAAGAAAAA MANE Select | NP_000086.2:n.976-221_976-220insAAGAAAAA |