Linked Data
dbSNP Id:
rs748497673
ExAC:
1:161275817 T / TTCCCA
gnomAD v2:
1-161275817-T-TTCCCA
gnomAD v4:
1-161306027-T-TTCCCA
MyVariant Identifiers:
chr1:g.161275817_161275818insTCCCA (hg19)
chr1:g.161306027_161306028insTCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306033_161306037dup , CM000663.2:g.161306033_161306037dup | GRCh38 |
| NC_000001.10:g.161275823_161275827dup , CM000663.1:g.161275823_161275827dup | GRCh37 |
| NC_000001.9:g.159542447_159542451dup | NCBI36 |
| NG_008055.1:g.8941_8945dup , LRG_256:g.8941_8945dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.565-55_565-51dup | ENSP00000488104.2:n.565-55_565-51dup | |
| ENST00000533357.5:c.646-55_646-51dup MANE Select | ENSP00000432943.1:n.646-55_646-51dup | |
| ENST00000672287.2:c.58-55_58-51dup | ENSP00000499818.2:n.58-55_58-51dup | |
| ENST00000672602.2:c.646-55_646-51dup | ENSP00000500814.2:n.646-55_646-51dup | |
| ENST00000674861.1:n.709-55_709-51dup | ||
| ENST00000463290.5:c.646-55_646-51dup | ENSP00000431538.1:n.646-55_646-51dup | |
| ENST00000476410.1:n.181_185dup | ||
| ENST00000488271.1:n.84-55_84-51dup | ||
| ENST00000491222.5:c.58-55_58-51dup | ENSP00000431441.1:n.58-55_58-51dup | |
| ENST00000526189.2:c.309-55_309-51dup | ||
| ENST00000533357.4:c.646-55_646-51dup | ENSP00000432943.1:n.646-55_646-51dup | |
| NM_000530.6:c.646-55_646-51dup , LRG_256t1:c.646-55_646-51dup | NP_000521.2:n.646-55_646-51dup | |
| NM_000530.7:c.646-55_646-51dup | NP_000521.2:n.646-55_646-51dup | |
| NM_001315491.1:c.646-55_646-51dup | NP_001302420.1:n.646-55_646-51dup | |
| XM_017001321.2:c.675+76_675+80dup | XP_016856810.1:n.675+76_675+80dup | |
| NM_000530.8:c.646-55_646-51dup MANE Select | NP_000521.2:n.646-55_646-51dup | |
| NM_001315491.2:c.646-55_646-51dup | NP_001302420.1:n.646-55_646-51dup |