Linked Data
dbSNP Id:
rs1561470318
gnomAD v2:
5-134364238-G-GTTTTT
gnomAD v3:
5-135028548-G-GTTTTT
gnomAD v4:
5-135028548-G-GTTTTT
MyVariant Identifiers:
chr5:g.134364239_134364241delinsTTTTTCTT (hg19)
chr5:g.135028549_135028551delinsTTTTTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028548_135028549insTTTTT , CM000667.2:g.135028548_135028549insTTTTT | GRCh38 |
| NC_000005.9:g.134364238_134364239insTTTTT , CM000667.1:g.134364238_134364239insTTTTT | GRCh37 |
| NC_000005.8:g.134392137_134392138insTTTTT | NCBI36 |
| NG_012114.1:g.10726_10727insAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*230_*231insAAAAA MANE Select | ENSP00000265340.6:n.*230_*231insAAAAA | |
| ENST00000265340.11:c.*230_*231insAAAAA | ENSP00000265340.6:n.*230_*231insAAAAA | |
| NM_002653.4:c.*230_*231insAAAAA | NP_002644.4:n.*230_*231insAAAAA | |
| NM_002653.5:c.*230_*231insAAAAA MANE Select | NP_002644.4:n.*230_*231insAAAAA |