Linked Data
dbSNP Id:
rs1216117652
gnomAD v3:
12-9723559-T-TTTATCA
gnomAD v4:
12-9723559-T-TTTATCA
MyVariant Identifiers:
chr12:g.9876155_9876156insTTATCA (hg19)
chr12:g.9723559_9723560insTTATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9723562_9723567dup , CM000674.2:g.9723562_9723567dup | GRCh38 |
| NC_000012.11:g.9876158_9876163dup , CM000674.1:g.9876158_9876163dup | GRCh37 |
| NC_000012.10:g.9767425_9767430dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000702603.1:n.150-752_150-747dup | ||
| ENST00000327839.4:n.352-752_352-747dup | ||
| ENST00000621400.5:n.263-752_263-747dup | ||
| ENST00000327839.3:c.317-752_317-747dup | ENSP00000331766.3:n.317-752_317-747dup | |
| ENST00000542530.5:c.172-752_172-747dup | ||
| ENST00000621400.4:c.317-752_317-747dup | ENSP00000483624.1:n.317-752_317-747dup | |
| NM_001253750.1:c.317-752_317-747dup | NP_001240679.1:n.317-752_317-747dup | |
| NM_001267701.1:c.317-752_317-747dup | NP_001254630.1:n.317-752_317-747dup | |
| NM_172004.3:c.317-752_317-747dup | NP_742001.1:n.317-752_317-747dup | |
| XM_011520574.1:c.317-752_317-747dup | XP_011518876.1:n.317-752_317-747dup | |
| XM_011520574.2:c.317-752_317-747dup | XP_011518876.1:n.317-752_317-747dup | |
| XM_017018885.1:c.149-752_149-747dup | XP_016874374.1:n.149-752_149-747dup | |
| NR_172485.1:n.349-752_349-747dup | ||
| NR_172486.1:n.349-752_349-747dup |