Linked Data
dbSNP Id:
rs796946519
gnomAD v2:
10-104661414-CAGA-C
gnomAD v3:
10-102901657-CAGA-C
gnomAD v4:
10-102901657-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102901663_102901665del , CM000672.2:g.102901663_102901665del | GRCh38 |
| NC_000010.10:g.104661420_104661422del , CM000672.1:g.104661420_104661422del | GRCh37 |
| NC_000010.9:g.104651410_104651412del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369880.8:c.*963_*965del (AS3MT) MANE Select | ENSP00000358896.3:n.*963_*965del | |
| ENST00000299353.6:c.*2098_*2100del (BORCS7-ASMT) | ENSP00000299353.5:n.*2098_*2100del | |
| ENST00000369880.7:c.*963_*965del (AS3MT) | ENSP00000358896.3:n.*963_*965del | |
| ENST00000615257.1:c.*398_*400del (AS3MT) | ENSP00000479361.1:n.*398_*400del | |
| NM_020682.3:c.*963_*965del (AS3MT) | NP_065733.2:n.*963_*965del | |
| NR_037644.1:n.2496_2498del (BORCS7-ASMT) | ||
| XM_017017027.1:c.447-1150_447-1148del | XP_016872516.1:n.447-1150_447-1148del | |
| XR_001747577.1:n.169-1150_169-1148del | ||
| XR_001747578.1:n.345-1150_345-1148del | ||
| NM_020682.4:c.*963_*965del (AS3MT) MANE Select | NP_065733.2:n.*963_*965del | |
| NR_160733.1:n.169-1150_169-1148del |