Linked Data
dbSNP Id:
rs1417236090
MyVariant Identifiers:
chr5:g.127692697_127692698insTG (hg19)
chr5:g.128357005_128357006insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357012_128357013dup , CM000667.2:g.128357012_128357013dup | GRCh38 |
| NC_000005.9:g.127692704_127692705dup , CM000667.1:g.127692704_127692705dup | GRCh37 |
| NC_000005.8:g.127720603_127720604dup | NCBI36 |
| NG_008750.1:g.186037_186038dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2674+269_2674+270dup MANE Select | ENSP00000262464.4:n.2674+269_2674+270dup | |
| ENST00000262464.8:c.2674+269_2674+270dup | ENSP00000262464.4:n.2674+269_2674+270dup | |
| ENST00000508053.5:c.2674+269_2674+270dup | ENSP00000424571.1:n.2674+269_2674+270dup | |
| ENST00000508989.5:c.2575+269_2575+270dup | ENSP00000425596.1:n.2575+269_2575+270dup | |
| ENST00000619499.4:c.2671+269_2671+270dup | ENSP00000482132.1:n.2671+269_2671+270dup | |
| NM_001999.3:c.2674+269_2674+270dup | NP_001990.2:n.2674+269_2674+270dup | |
| XM_017009228.2:c.2521+269_2521+270dup | XP_016864717.1:n.2521+269_2521+270dup | |
| NM_001999.4:c.2674+269_2674+270dup MANE Select | NP_001990.2:n.2674+269_2674+270dup |