Canonical Allele Identifier: CA729298264

Gene: CDC73

Linked Data

• dbSNP Id: rs1249033598
• gnomAD v3: 1-193203676-CAACT-C
• gnomAD v4: 1-193203676-CAACT-C
• MyVariant Identifiers: chr1:g.193172807_193172810del (hg19) ; chr1:g.193203677_193203680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203677_193203680del , CM000663.2:g.193203677_193203680del	GRCh38
NC_000001.10:g.193172807_193172810del , CM000663.1:g.193172807_193172810del	GRCh37
NC_000001.9:g.191439430_191439433del	NCBI36
NG_012691.1:g.86720_86723del , LRG_507:g.86720_86723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.973-118_973-115del MANE Select	ENSP00000356405.4:n.973-118_973-115del
ENST00000635846.1:c.730-118_730-115del	ENSP00000490035.1:n.730-118_730-115del
ENST00000643006.1:c.1041-118_1041-115del	ENSP00000496633.1:n.1041-118_1041-115del
ENST00000648071.1:c.*949-118_*949-115del	ENSP00000497513.1:n.*949-118_*949-115del
ENST00000649613.1:n.223-118_223-115del
ENST00000649895.1:n.1191-118_1191-115del
ENST00000650197.1:c.973-118_973-115del	ENSP00000496929.1:n.973-118_973-115del
ENST00000367435.3:c.973-118_973-115del	ENSP00000356405.3:n.973-118_973-115del
NM_024529.4:c.973-118_973-115del , LRG_507t1:c.973-118_973-115del	NP_078805.3:n.973-118_973-115del
NM_024529.5:c.973-118_973-115del MANE Select	NP_078805.3:n.973-118_973-115del