Canonical Allele Identifier: CA528011267

Gene: CDC73

Linked Data

• dbSNP Id: rs1204392280
• gnomAD v2: 1-193172724-CTT-C
• gnomAD v3: 1-193203594-CTT-C
• gnomAD v4: 1-193203594-CTT-C
• MyVariant Identifiers: chr1:g.193172725_193172726del (hg19) ; chr1:g.193203595_193203596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203595_193203596del , CM000663.2:g.193203595_193203596del	GRCh38
NC_000001.10:g.193172725_193172726del , CM000663.1:g.193172725_193172726del	GRCh37
NC_000001.9:g.191439348_191439349del	NCBI36
NG_012691.1:g.86638_86639del , LRG_507:g.86638_86639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.973-200_973-199del MANE Select	ENSP00000356405.4:n.973-200_973-199del
ENST00000635846.1:c.730-200_730-199del	ENSP00000490035.1:n.730-200_730-199del
ENST00000643006.1:c.1041-200_1041-199del	ENSP00000496633.1:n.1041-200_1041-199del
ENST00000648071.1:c.*949-200_*949-199del	ENSP00000497513.1:n.*949-200_*949-199del
ENST00000649613.1:n.223-200_223-199del
ENST00000649895.1:n.1191-200_1191-199del
ENST00000650197.1:c.973-200_973-199del	ENSP00000496929.1:n.973-200_973-199del
ENST00000367435.3:c.973-200_973-199del	ENSP00000356405.3:n.973-200_973-199del
NM_024529.4:c.973-200_973-199del , LRG_507t1:c.973-200_973-199del	NP_078805.3:n.973-200_973-199del
NM_024529.5:c.973-200_973-199del MANE Select	NP_078805.3:n.973-200_973-199del