Linked Data
dbSNP Id:
rs1558135160
gnomAD v2:
1-216040474-C-CTGT
gnomAD v4:
1-215867132-C-CTGT
MyVariant Identifiers:
chr1:g.216040474_216040475insTGT (hg19)
chr1:g.215867132_215867133insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867136_215867138dup , CM000663.2:g.215867136_215867138dup | GRCh38 |
| NC_000001.10:g.216040478_216040480dup , CM000663.1:g.216040478_216040480dup | GRCh37 |
| NC_000001.9:g.214107101_214107103dup | NCBI36 |
| NG_009497.1:g.561262_561264dup | |
| NG_009497.2:g.561314_561316dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8717_8719dup MANE Select | ENSP00000305941.3:p.Asn2906_Ser2907insAsn | |
| ENST00000674083.1:c.8717_8719dup | ENSP00000501296.1:p.Asn2906_Ser2907insAsn | |
| ENST00000307340.7:c.8717_8719dup | ENSP00000305941.3:p.Asn2906_Ser2907insAsn | |
| NM_206933.2:c.8717_8719dup | NP_996816.2:p.Asn2906_Ser2907insAsn | |
| NM_206933.3:c.8717_8719dup | NP_996816.2:p.Asn2906_Ser2907insAsn | |
| NM_206933.4:c.8717_8719dup MANE Select | NP_996816.3:p.Asn2906_Ser2907insAsn |