Canonical Allele Identifier: CA4228642

Gene: CDK13

Linked Data

• dbSNP Id: rs758207019
• ExAC: 7:40039063 T / TA
• gnomAD v2: 7-40039063-T-TA
• gnomAD v4: 7-39999464-T-TA
• MyVariant Identifiers: chr7:g.40039063_40039064insA (hg19) ; chr7:g.39999464_39999465insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999465dup , CM000669.2:g.39999465dup	GRCh38
NC_000007.13:g.40039064dup , CM000669.1:g.40039064dup	GRCh37
NC_000007.12:g.40005589dup	NCBI36
NG_052965.1:g.54106dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2147dup MANE Select	ENSP00000181839.4:p.Tyr716Ter
ENST00000340829.10:c.2147dup	ENSP00000340557.5:p.Tyr716Ter
ENST00000484589.2:c.699dup
ENST00000642213.1:n.629dup
ENST00000643859.1:c.1038dup
ENST00000643915.1:c.461dup	ENSP00000496187.1:p.Tyr154Ter
ENST00000645470.1:c.77dup	ENSP00000495036.1:p.Tyr26Ter
ENST00000646039.1:c.1487dup	ENSP00000494168.1:p.Tyr496Ter
ENST00000647453.1:n.1216dup
ENST00000647518.1:n.3984dup
ENST00000181839.8:c.2147dup	ENSP00000181839.4:p.Tyr716Ter
ENST00000340829.9:c.2147dup	ENSP00000340557.5:p.Tyr716Ter
ENST00000484589.1:n.699dup
ENST00000611390.1:c.305dup	ENSP00000484610.1:p.Tyr102Ter
ENST00000613626.4:c.305dup	ENSP00000480835.1:p.Tyr102Ter
NM_003718.4:c.2147dup	NP_003709.3:p.Tyr716Ter
NM_031267.3:c.2147dup	NP_112557.2:p.Tyr716Ter
XM_011515597.1:c.2147dup	XP_011513899.1:p.Tyr716Ter
XM_011515598.1:c.2147dup	XP_011513900.1:p.Tyr716Ter
XM_011515597.3:c.2147dup	XP_011513899.1:p.Tyr716Ter
XM_017012750.2:c.2147dup	XP_016868239.1:p.Tyr716Ter
XM_017012751.2:c.2147dup	XP_016868240.1:p.Tyr716Ter
NM_003718.5:c.2147dup MANE Select	NP_003709.3:p.Tyr716Ter