Canonical Allele Identifier: CA522629142

Gene: CMPK1 LINC01389

Linked Data

• dbSNP Id: rs1231372509
• gnomAD v2: 1-47854542-CAG-C
• gnomAD v3: 1-47388870-CAG-C
• gnomAD v4: 1-47388870-CAG-C
• MyVariant Identifiers: chr1:g.47854543_47854544del (hg19) ; chr1:g.47388871_47388872del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47388873_47388874del , CM000663.2:g.47388873_47388874del	GRCh38
NC_000001.10:g.47854545_47854546del , CM000663.1:g.47854545_47854546del	GRCh37
NC_000001.9:g.47627132_47627133del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000699074.1:c.550-5408_550-5407del (CMPK1)	ENSP00000514113.1:n.550-5408_550-5407del
NR_126355.1:n.405-2516_405-2515del (LINC01389)