Linked Data
dbSNP Id:
rs1553307861
gnomAD v2:
1-204159537-T-TCC
gnomAD v3:
1-204190409-T-TCC
gnomAD v4:
1-204190409-T-TCC
MyVariant Identifiers:
chr1:g.204159537_204159538insCC (hg19)
chr1:g.204190409_204190410insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190412_204190413dup , CM000663.2:g.204190412_204190413dup | GRCh38 |
| NC_000001.10:g.204159540_204159541dup , CM000663.1:g.204159540_204159541dup | GRCh37 |
| NC_000001.9:g.202426163_202426164dup | NCBI36 |
| NG_032151.1:g.11081_11082dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*73_*74dup MANE Select | ENSP00000356162.4:n.*73_*74dup | |
| ENST00000367194.4:c.*73_*74dup | ENSP00000356162.4:n.*73_*74dup | |
| NM_002256.3:c.*73_*74dup | NP_002247.3:n.*73_*74dup | |
| XM_011509525.1:c.*73_*74dup | XP_011507827.1:n.*73_*74dup | |
| NM_002256.4:c.*73_*74dup MANE Select | NP_002247.3:n.*73_*74dup |