Linked Data
dbSNP Id:
rs1175837602
MyVariant Identifiers:
chr10:g.126094322_126094323insCA (hg19)
chr10:g.124405753_124405754insCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124405755_124405756dup , CM000672.2:g.124405755_124405756dup | GRCh38 |
| NC_000010.10:g.126094324_126094325dup , CM000672.1:g.126094324_126094325dup | GRCh37 |
| NC_000010.9:g.126084314_126084315dup | NCBI36 |
| NG_008861.1:g.18196_18197dup , LRG_685:g.18196_18197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.521-192_521-191dup MANE Select | ENSP00000357838.5:n.521-192_521-191dup | |
| ENST00000368845.5:c.521-192_521-191dup | ENSP00000357838.5:n.521-192_521-191dup | |
| ENST00000467675.5:n.322-192_322-191dup | ||
| ENST00000483711.1:n.175_176dup | ||
| ENST00000539214.5:c.107-192_107-191dup | ENSP00000439042.1:n.107-192_107-191dup | |
| NM_000274.3:c.521-192_521-191dup , LRG_685t1:c.521-192_521-191dup | NP_000265.1:n.521-192_521-191dup | |
| NM_001171814.1:c.107-192_107-191dup | NP_001165285.1:n.107-192_107-191dup | |
| XM_006717871.2:c.521-192_521-191dup | XP_006717934.1:n.521-192_521-191dup | |
| XM_011539833.1:c.521-192_521-191dup | XP_011538135.1:n.521-192_521-191dup | |
| XM_011539834.1:c.521-192_521-191dup | XP_011538136.1:n.521-192_521-191dup | |
| NM_001322965.1:c.521-192_521-191dup | NP_001309894.1:n.521-192_521-191dup | |
| NM_001322966.1:c.521-192_521-191dup | NP_001309895.1:n.521-192_521-191dup | |
| NM_001322967.1:c.521-192_521-191dup | NP_001309896.1:n.521-192_521-191dup | |
| NM_001322968.1:c.521-192_521-191dup | NP_001309897.1:n.521-192_521-191dup | |
| NM_001322969.1:c.521-192_521-191dup | NP_001309898.1:n.521-192_521-191dup | |
| NM_001322970.1:c.521-192_521-191dup | NP_001309899.1:n.521-192_521-191dup | |
| NM_001322971.1:c.200-192_200-191dup | NP_001309900.1:n.200-192_200-191dup | |
| NM_001322974.1:c.-80-192_-80-191dup | NP_001309903.1:n.-80-192_-80-191dup | |
| XM_017016279.1:c.-272_-271dup | XP_016871768.1:n.-272_-271dup | |
| NM_000274.4:c.521-192_521-191dup MANE Select | NP_000265.1:n.521-192_521-191dup | |
| NM_001322965.2:c.521-192_521-191dup | NP_001309894.1:n.521-192_521-191dup | |
| NM_001322966.2:c.521-192_521-191dup | NP_001309895.1:n.521-192_521-191dup | |
| NM_001322967.2:c.521-192_521-191dup | NP_001309896.1:n.521-192_521-191dup | |
| NM_001322968.2:c.521-192_521-191dup | NP_001309897.1:n.521-192_521-191dup | |
| NM_001322969.2:c.521-192_521-191dup | NP_001309898.1:n.521-192_521-191dup | |
| NM_001322970.2:c.521-192_521-191dup | NP_001309899.1:n.521-192_521-191dup | |
| NM_001322971.2:c.200-192_200-191dup | NP_001309900.1:n.200-192_200-191dup | |
| NM_001322974.2:c.-80-192_-80-191dup | NP_001309903.1:n.-80-192_-80-191dup | |
| NM_001171814.2:c.107-192_107-191dup | NP_001165285.1:n.107-192_107-191dup |