Canonical Allele Identifier: CA006569
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 48971

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900830_132900833del , CM000671.2:g.132900830_132900833del GRCh38
NC_000009.11:g.135776217_135776220del , CM000671.1:g.135776217_135776220del GRCh37
NC_000009.10:g.134766038_134766041del NCBI36
NG_012386.1:g.48803_48806del , LRG_486:g.48803_48806del

Transcript Alleles

HGVS Amino-acid change
NM_000368.4:c.2509_2512del , LRG_486t1:c.2509_2512del NP_000359.1:p.Asn837ValfsTer11
NM_001162426.1:c.2506_2509del VV NP_001155898.1:p.Asn836ValfsTer11
NM_001162427.1:c.2356_2359del VV NP_001155899.1:p.Asn786ValfsTer11
XM_005272211.1:c.2509_2512del XP_005272268.1:p.Asn837ValfsTer11
XM_006717271.1:c.2509_2512del XP_006717334.1:p.Asn837ValfsTer11
XM_011518979.1:c.2509_2512del XP_011517281.1:p.Asn837ValfsTer11
NM_001362177.1:c.2146_2149del VV NP_001349106.1:p.Asn716ValfsTer11
XM_011518979.2:c.2509_2512del XP_011517281.1:p.Asn837ValfsTer11
XM_017015096.1:c.2509_2512del XP_016870585.1:p.Asn837ValfsTer11
XM_017015097.1:c.2509_2512del XP_016870586.1:p.Asn837ValfsTer11
XM_017015098.1:c.2506_2509del XP_016870587.1:p.Asn836ValfsTer11
XM_017015100.1:c.2146_2149del XP_016870589.1:p.Asn716ValfsTer11
XM_017015101.1:c.2143_2146del XP_016870590.1:p.Asn715ValfsTer11
ENST00000298552.7:c.2509_2512del ENSP00000298552.3:p.Asn837ValfsTer11
ENST00000440111.6:c.2509_2512del ENSP00000394524.2:p.Asn837ValfsTer11
ENST00000545250.5:c.2356_2359del ENSP00000444017.1:p.Asn786ValfsTer11