Canonical Allele Identifier: CA573989716

Gene: CDK13

Linked Data

• dbSNP Id: rs1554326783
• gnomAD v2: 7-40039227-CTT-C
• gnomAD v3: 7-39999628-CTT-C
• gnomAD v4: 7-39999628-CTT-C
• MyVariant Identifiers: chr7:g.40039228_40039231delinsGT (hg19) ; chr7:g.39999629_39999632delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999629_39999630del , CM000669.2:g.39999629_39999630del	GRCh38
NC_000007.13:g.40039228_40039229del , CM000669.1:g.40039228_40039229del	GRCh37
NC_000007.12:g.40005753_40005754del	NCBI36
NG_052965.1:g.54270_54271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2182+129_2182+130del MANE Select	ENSP00000181839.4:n.2182+129_2182+130del
ENST00000340829.10:c.2182+129_2182+130del	ENSP00000340557.5:n.2182+129_2182+130del
ENST00000484589.2:c.734+129_734+130del
ENST00000642213.1:n.664+129_664+130del
ENST00000643859.1:c.1073+129_1073+130del
ENST00000643915.1:c.496+129_496+130del	ENSP00000496187.1:n.496+129_496+130del
ENST00000645470.1:c.112+129_112+130del	ENSP00000495036.1:n.112+129_112+130del
ENST00000646039.1:c.1522+129_1522+130del	ENSP00000494168.1:n.1522+129_1522+130del
ENST00000647453.1:n.1251+129_1251+130del
ENST00000647518.1:n.4019+129_4019+130del
ENST00000181839.8:c.2182+129_2182+130del	ENSP00000181839.4:n.2182+129_2182+130del
ENST00000340829.9:c.2182+129_2182+130del	ENSP00000340557.5:n.2182+129_2182+130del
ENST00000484589.1:n.734+129_734+130del
ENST00000611390.1:c.340+129_340+130del	ENSP00000484610.1:n.340+129_340+130del
ENST00000613626.4:c.340+129_340+130del	ENSP00000480835.1:n.340+129_340+130del
NM_003718.4:c.2182+129_2182+130del	NP_003709.3:n.2182+129_2182+130del
NM_031267.3:c.2182+129_2182+130del	NP_112557.2:n.2182+129_2182+130del
XM_011515597.1:c.2182+129_2182+130del	XP_011513899.1:n.2182+129_2182+130del
XM_011515598.1:c.2182+129_2182+130del	XP_011513900.1:n.2182+129_2182+130del
XM_011515597.3:c.2182+129_2182+130del	XP_011513899.1:n.2182+129_2182+130del
XM_017012750.2:c.2182+129_2182+130del	XP_016868239.1:n.2182+129_2182+130del
XM_017012751.2:c.2182+129_2182+130del	XP_016868240.1:n.2182+129_2182+130del
NM_003718.5:c.2182+129_2182+130del MANE Select	NP_003709.3:n.2182+129_2182+130del