Linked Data
dbSNP Id:
rs746464420
MyVariant Identifiers:
chr17:g.40723649_40723650insTCTTGTTGGCTG (hg19)
chr17:g.42571631_42571632insTCTTGTTGGCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571631_42571632insTCTTGTTGGCTG , CM000679.2:g.42571631_42571632insTCTTGTTGGCTG | GRCh38 |
| NC_000017.10:g.40723649_40723650insTCTTGTTGGCTG , CM000679.1:g.40723649_40723650insTCTTGTTGGCTG | GRCh37 |
| NC_000017.9:g.37977175_37977176insTCTTGTTGGCTG | NCBI36 |
| NG_029442.1:g.9572_9573insTCTTGTTGGCTG | |
| NG_031960.1:g.11200_11201insCAGCCAACAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.*28_*29insTCTTGTTGGCTG MANE Select | ENSP00000416627.1:n.*28_*29insTCTTGTTGGCTG | |
| ENST00000246912.8:c.*28_*29insTCTTGTTGGCTG | ENSP00000246912.3:n.*28_*29insTCTTGTTGGCTG | |
| ENST00000346833.8:c.*28_*29insTCTTGTTGGCTG | ENSP00000320913.3:n.*28_*29insTCTTGTTGGCTG | |
| ENST00000435881.6:c.*28_*29insTCTTGTTGGCTG | ENSP00000416627.1:n.*28_*29insTCTTGTTGGCTG | |
| ENST00000585403.5:n.970_971insTCTTGTTGGCTG | ||
| ENST00000588320.1:n.1239_1240insTCTTGTTGGCTG | ||
| ENST00000590050.5:n.929_930insTCTTGTTGGCTG | ||
| NM_170607.2:c.*28_*29insTCTTGTTGGCTG | NP_733752.1:n.*28_*29insTCTTGTTGGCTG | |
| NM_198204.1:c.*28_*29insTCTTGTTGGCTG | NP_937847.1:n.*28_*29insTCTTGTTGGCTG | |
| NM_198205.1:c.*28_*29insTCTTGTTGGCTG | NP_937848.1:n.*28_*29insTCTTGTTGGCTG | |
| NM_198204.2:c.*28_*29insTCTTGTTGGCTG MANE Select | NP_937847.1:n.*28_*29insTCTTGTTGGCTG | |
| NM_170607.3:c.*28_*29insTCTTGTTGGCTG | NP_733752.1:n.*28_*29insTCTTGTTGGCTG | |
| NM_198205.2:c.*28_*29insTCTTGTTGGCTG | NP_937848.1:n.*28_*29insTCTTGTTGGCTG |