Canonical Allele Identifier: CA729298276

Gene: CDC73

Linked Data

• dbSNP Id: rs1223901255
• gnomAD v3: 1-193203679-CTGAG-C
• gnomAD v4: 1-193203679-CTGAG-C
• MyVariant Identifiers: chr1:g.193172810_193172813del (hg19) ; chr1:g.193203680_193203683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203684_193203687del , CM000663.2:g.193203684_193203687del	GRCh38
NC_000001.10:g.193172814_193172817del , CM000663.1:g.193172814_193172817del	GRCh37
NC_000001.9:g.191439437_191439440del	NCBI36
NG_012691.1:g.86727_86730del , LRG_507:g.86727_86730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.973-111_973-108del MANE Select	ENSP00000356405.4:n.973-111_973-108del
ENST00000635846.1:c.730-111_730-108del	ENSP00000490035.1:n.730-111_730-108del
ENST00000643006.1:c.1041-111_1041-108del	ENSP00000496633.1:n.1041-111_1041-108del
ENST00000648071.1:c.*949-111_*949-108del	ENSP00000497513.1:n.*949-111_*949-108del
ENST00000649613.1:n.223-111_223-108del
ENST00000649895.1:n.1191-111_1191-108del
ENST00000650197.1:c.973-111_973-108del	ENSP00000496929.1:n.973-111_973-108del
ENST00000367435.3:c.973-111_973-108del	ENSP00000356405.3:n.973-111_973-108del
NM_024529.4:c.973-111_973-108del , LRG_507t1:c.973-111_973-108del	NP_078805.3:n.973-111_973-108del
NM_024529.5:c.973-111_973-108del MANE Select	NP_078805.3:n.973-111_973-108del