Canonical Allele Identifier: CA1701755713

Gene: CDK13

Linked Data

• ClinVar Variation Id: 996798
• ClinVar RCV Id: RCV001291589
• dbSNP Id: rs1785728001

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40045922del , CM000669.2:g.40045922del	GRCh38
NC_000007.13:g.40085521del , CM000669.1:g.40085521del	GRCh37
NC_000007.12:g.40052046del	NCBI36
NG_052965.1:g.100563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.176del
ENST00000700486.1:n.214del
ENST00000700487.1:n.182del
ENST00000181839.10:c.2440del MANE Select	ENSP00000181839.4:p.Ile814Ter
ENST00000340829.10:c.2440del	ENSP00000340557.5:p.Ile814Ter
ENST00000484589.2:c.992del
ENST00000643859.1:c.1331del
ENST00000643915.1:c.754del	ENSP00000496187.1:p.Ile252Ter
ENST00000645470.1:c.370del	ENSP00000495036.1:p.Ile124Ter
ENST00000646039.1:c.1780del	ENSP00000494168.1:p.Ile594Ter
ENST00000647453.1:n.1509del
ENST00000181839.8:c.2440del	ENSP00000181839.4:p.Ile814Ter
ENST00000340829.9:c.2440del	ENSP00000340557.5:p.Ile814Ter
ENST00000484589.1:n.992del
ENST00000611390.1:c.598del	ENSP00000484610.1:p.Ile200Ter
ENST00000613626.4:c.598del	ENSP00000480835.1:p.Ile200Ter
NM_003718.4:c.2440del	NP_003709.3:p.Ile814Ter
NM_031267.3:c.2440del	NP_112557.2:p.Ile814Ter
XM_011515597.1:c.2440del	XP_011513899.1:p.Ile814Ter
XM_011515598.1:c.2440del	XP_011513900.1:p.Ile814Ter
XM_011515597.3:c.2440del	XP_011513899.1:p.Ile814Ter
XM_017012750.2:c.2440del	XP_016868239.1:p.Ile814Ter
XM_017012751.2:c.2440del	XP_016868240.1:p.Ile814Ter
NM_003718.5:c.2440del MANE Select	NP_003709.3:p.Ile814Ter