Canonical Allele Identifier: CA1562465
Community Standard Title: NM_145038.5(DRC1):c.1976del (p.Ser659TrpfsTer7)
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26454703del , CM000664.2:g.26454703del GRCh38
NC_000002.11:g.26677571del , CM000664.1:g.26677571del GRCh37
NC_000002.10:g.26531075del NCBI36
NG_042824.1:g.57792del

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.1976del MANE Select NP_659475.2:p.Ser659TrpfsTer7
ENST00000288710.7:c.1976del MANE Select ENSP00000288710.2:p.Ser659TrpfsTer7
NM_145038.3:c.1976del NP_659475.2:p.Ser659TrpfsTer7
NM_145038.4:c.1976del NP_659475.2:p.Ser659TrpfsTer7
ENST00000288710.6:c.1976del ENSP00000288710.2:p.Ser659TrpfsTer7
ENST00000649059.1:c.1822del
XM_005264637.3:c.1358del XP_005264694.1:p.Ser453TrpfsTer7
XM_005264638.3:c.956del XP_005264695.1:p.Ser319TrpfsTer7
XM_017005271.1:c.956del XP_016860760.1:p.Ser319TrpfsTer7
XM_024453218.1:c.956del XP_024308986.1:p.Ser319TrpfsTer7