Canonical Allele Identifier: CA4228650

Gene: CDK13

Linked Data

• dbSNP Id: rs763980624
• ExAC: 7:40039114 TTCTGGGGA / T
• gnomAD v2: 7-40039114-TTCTGGGGA-T
• MyVariant Identifiers: chr7:g.40039115_40039122del (hg19) ; chr7:g.39999516_39999523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999519_39999526del , CM000669.2:g.39999519_39999526del	GRCh38
NC_000007.13:g.40039118_40039125del , CM000669.1:g.40039118_40039125del	GRCh37
NC_000007.12:g.40005643_40005650del	NCBI36
NG_052965.1:g.54160_54167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2182+19_2182+26del MANE Select	ENSP00000181839.4:n.2182+19_2182+26del
ENST00000340829.10:c.2182+19_2182+26del	ENSP00000340557.5:n.2182+19_2182+26del
ENST00000484589.2:c.734+19_734+26del
ENST00000642213.1:n.664+19_664+26del
ENST00000643859.1:c.1073+19_1073+26del
ENST00000643915.1:c.496+19_496+26del	ENSP00000496187.1:n.496+19_496+26del
ENST00000645470.1:c.112+19_112+26del	ENSP00000495036.1:n.112+19_112+26del
ENST00000646039.1:c.1522+19_1522+26del	ENSP00000494168.1:n.1522+19_1522+26del
ENST00000647453.1:n.1251+19_1251+26del
ENST00000647518.1:n.4019+19_4019+26del
ENST00000181839.8:c.2182+19_2182+26del	ENSP00000181839.4:n.2182+19_2182+26del
ENST00000340829.9:c.2182+19_2182+26del	ENSP00000340557.5:n.2182+19_2182+26del
ENST00000484589.1:n.734+19_734+26del
ENST00000611390.1:c.340+19_340+26del	ENSP00000484610.1:n.340+19_340+26del
ENST00000613626.4:c.340+19_340+26del	ENSP00000480835.1:n.340+19_340+26del
NM_003718.4:c.2182+19_2182+26del	NP_003709.3:n.2182+19_2182+26del
NM_031267.3:c.2182+19_2182+26del	NP_112557.2:n.2182+19_2182+26del
XM_011515597.1:c.2182+19_2182+26del	XP_011513899.1:n.2182+19_2182+26del
XM_011515598.1:c.2182+19_2182+26del	XP_011513900.1:n.2182+19_2182+26del
XM_011515597.3:c.2182+19_2182+26del	XP_011513899.1:n.2182+19_2182+26del
XM_017012750.2:c.2182+19_2182+26del	XP_016868239.1:n.2182+19_2182+26del
XM_017012751.2:c.2182+19_2182+26del	XP_016868240.1:n.2182+19_2182+26del
NM_003718.5:c.2182+19_2182+26del MANE Select	NP_003709.3:n.2182+19_2182+26del