Linked Data
dbSNP Id:
rs1652423486
gnomAD v3:
1-152311478-G-GGGTGCA
gnomAD v4:
1-152311478-G-GGGTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311479_152311480insGTGCAG , CM000663.2:g.152311479_152311480insGTGCAG | GRCh38 |
| NC_000001.10:g.152283955_152283956insGTGCAG , CM000663.1:g.152283955_152283956insGTGCAG | GRCh37 |
| NC_000001.9:g.150550579_150550580insGTGCAG | NCBI36 |
| NG_016190.1:g.18725_18726insTGCACC , LRG_1028:g.18725_18726insTGCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3407_3408insTGCACC MANE Select | ENSP00000357789.1:p.Thr1136_Ser1137insAlaPro | |
| ENST00000368799.1:c.3407_3408insTGCACC | ENSP00000357789.1:p.Thr1136_Ser1137insAlaPro | |
| NM_002016.1:c.3407_3408insTGCACC , LRG_1028t1:c.3407_3408insTGCACC | NP_002007.1:p.Thr1136_Ser1137insAlaPro | |
| XM_011509329.1:c.3407_3408insTGCACC | XP_011507631.1:p.Thr1136_Ser1137insAlaPro | |
| NM_002016.2:c.3407_3408insTGCACC MANE Select | NP_002007.1:p.Thr1136_Ser1137insAlaPro |