Canonical Allele Identifier: CA574229730

Gene: CDK13

Linked Data

• dbSNP Id: rs755709850
• gnomAD v2: 7-40041538-A-AGTCTGTCATTAAACAAATTATGGAATATTTACAT
• MyVariant Identifiers: chr7:g.40041538_40041539insGTCTGTCATTAAACAAATTATGGAATATTTACAT (hg19) ; chr7:g.40001939_40001940insGTCTGTCATTAAACAAATTATGGAATATTTACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40001939_40001940insGTCTGTCATTAAACAAATTATGGAATATTTACAT , CM000669.2:g.40001939_40001940insGTCTGTCATTAAACAAATTATGGAATATTTACAT	GRCh38
NC_000007.13:g.40041538_40041539insGTCTGTCATTAAACAAATTATGGAATATTTACAT , CM000669.1:g.40041538_40041539insGTCTGTCATTAAACAAATTATGGAATATTTACAT	GRCh37
NC_000007.12:g.40008063_40008064insGTCTGTCATTAAACAAATTATGGAATATTTACAT	NCBI36
NG_052965.1:g.56580_56581insGTCTGTCATTAAACAAATTATGGAATATTTACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT MANE Select	ENSP00000181839.4:p.Ile755SerfsTer30
ENST00000340829.10:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000340557.5:p.Ile755SerfsTer30
ENST00000484589.2:c.813_814insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000642213.1:n.743_744insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000643859.1:c.1152_1153insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000643915.1:c.575_576insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000496187.1:p.Ile193SerfsTer30
ENST00000645470.1:c.191_192insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000495036.1:p.Ile65SerfsTer30
ENST00000646039.1:c.1601_1602insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000494168.1:p.Ile535SerfsTer30
ENST00000647453.1:n.1330_1331insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000647518.1:n.4098_4099insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000181839.8:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000181839.4:p.Ile755SerfsTer30
ENST00000340829.9:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000340557.5:p.Ile755SerfsTer30
ENST00000484589.1:n.813_814insGTCTGTCATTAAACAAATTATGGAATATTTACAT
ENST00000611390.1:c.419_420insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000484610.1:p.Ile141SerfsTer30
ENST00000613626.4:c.419_420insGTCTGTCATTAAACAAATTATGGAATATTTACAT	ENSP00000480835.1:p.Ile141SerfsTer30
NM_003718.4:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	NP_003709.3:p.Ile755SerfsTer30
NM_031267.3:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	NP_112557.2:p.Ile755SerfsTer30
XM_011515597.1:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	XP_011513899.1:p.Ile755SerfsTer30
XM_011515598.1:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	XP_011513900.1:p.Ile755SerfsTer30
XM_011515597.3:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	XP_011513899.1:p.Ile755SerfsTer30
XM_017012750.2:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	XP_016868239.1:p.Ile755SerfsTer30
XM_017012751.2:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT	XP_016868240.1:p.Ile755SerfsTer30
NM_003718.5:c.2261_2262insGTCTGTCATTAAACAAATTATGGAATATTTACAT MANE Select	NP_003709.3:p.Ile755SerfsTer30