Linked Data
gnomAD v2:
1-152285011-C-CTG
gnomAD v4:
1-152312535-C-CTG
MyVariant Identifiers:
chr1:g.152285011_152285012insTG (hg19)
chr1:g.152312535_152312536insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312535_152312536insTG , CM000663.2:g.152312535_152312536insTG | GRCh38 |
| NC_000001.10:g.152285011_152285012insTG , CM000663.1:g.152285011_152285012insTG | GRCh37 |
| NC_000001.9:g.150551635_150551636insTG | NCBI36 |
| NG_016190.1:g.17668_17669insCA , LRG_1028:g.17668_17669insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.2350_2351insCA MANE Select | ENSP00000357789.1:p.Gly784AlafsTer15 | |
| ENST00000368799.1:c.2350_2351insCA | ENSP00000357789.1:p.Gly784AlafsTer15 | |
| NM_002016.1:c.2350_2351insCA , LRG_1028t1:c.2350_2351insCA | NP_002007.1:p.Gly784AlafsTer15 | |
| XM_011509329.1:c.2350_2351insCA | XP_011507631.1:p.Gly784AlafsTer15 | |
| NM_002016.2:c.2350_2351insCA MANE Select | NP_002007.1:p.Gly784AlafsTer15 |