Linked Data
dbSNP Id:
rs770048996
ExAC:
10:121431718 CA / C
gnomAD v2:
10-121431718-CA-C
gnomAD v3:
10-119672206-CA-C
gnomAD v4:
10-119672206-CA-C
MyVariant Identifiers:
chr10:g.121431719del (hg19)
chr10:g.121431719_121431723delinsGGGG (hg19)
chr10:g.119672207del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672207del , CM000672.2:g.119672207del | GRCh38 |
| NC_000010.10:g.121431719del , CM000672.1:g.121431719del | GRCh37 |
| NC_000010.9:g.121421709del | NCBI36 |
| NG_016125.1:g.25838del , LRG_742:g.25838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-48del MANE Select | ENSP00000358081.4:n.508-48del | |
| ENST00000369085.7:c.508-48del | ENSP00000358081.3:n.508-48del | |
| ENST00000450186.1:c.334-48del | ENSP00000410036.1:n.334-48del | |
| NM_004281.3:c.508-48del , LRG_742t1:c.508-48del | NP_004272.2:n.508-48del | |
| XM_005270287.1:c.508-48del | XP_005270344.1:n.508-48del | |
| XM_005270287.2:c.508-48del | XP_005270344.1:n.508-48del | |
| NM_004281.4:c.508-48del MANE Select | NP_004272.2:n.508-48del |