Canonical Allele Identifier: CA573989765

Gene: CDK13

Linked Data

• dbSNP Id: rs1224857641
• gnomAD v2: 7-40039407-GGTATCTTGACCT-G
• MyVariant Identifiers: chr7:g.40039408_40039419del (hg19) ; chr7:g.39999809_39999820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999810_39999821del , CM000669.2:g.39999810_39999821del	GRCh38
NC_000007.13:g.40039409_40039420del , CM000669.1:g.40039409_40039420del	GRCh37
NC_000007.12:g.40005934_40005945del	NCBI36
NG_052965.1:g.54451_54462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2182+310_2182+321del MANE Select	ENSP00000181839.4:n.2182+310_2182+321del
ENST00000340829.10:c.2182+310_2182+321del	ENSP00000340557.5:n.2182+310_2182+321del
ENST00000484589.2:c.734+310_734+321del
ENST00000642213.1:n.664+310_664+321del
ENST00000643859.1:c.1073+310_1073+321del
ENST00000643915.1:c.496+310_496+321del	ENSP00000496187.1:n.496+310_496+321del
ENST00000645470.1:c.112+310_112+321del	ENSP00000495036.1:n.112+310_112+321del
ENST00000646039.1:c.1522+310_1522+321del	ENSP00000494168.1:n.1522+310_1522+321del
ENST00000647453.1:n.1251+310_1251+321del
ENST00000647518.1:n.4019+310_4019+321del
ENST00000181839.8:c.2182+310_2182+321del	ENSP00000181839.4:n.2182+310_2182+321del
ENST00000340829.9:c.2182+310_2182+321del	ENSP00000340557.5:n.2182+310_2182+321del
ENST00000484589.1:n.734+310_734+321del
ENST00000611390.1:c.340+310_340+321del	ENSP00000484610.1:n.340+310_340+321del
ENST00000613626.4:c.340+310_340+321del	ENSP00000480835.1:n.340+310_340+321del
NM_003718.4:c.2182+310_2182+321del	NP_003709.3:n.2182+310_2182+321del
NM_031267.3:c.2182+310_2182+321del	NP_112557.2:n.2182+310_2182+321del
XM_011515597.1:c.2182+310_2182+321del	XP_011513899.1:n.2182+310_2182+321del
XM_011515598.1:c.2182+310_2182+321del	XP_011513900.1:n.2182+310_2182+321del
XM_011515597.3:c.2182+310_2182+321del	XP_011513899.1:n.2182+310_2182+321del
XM_017012750.2:c.2182+310_2182+321del	XP_016868239.1:n.2182+310_2182+321del
XM_017012751.2:c.2182+310_2182+321del	XP_016868240.1:n.2182+310_2182+321del
NM_003718.5:c.2182+310_2182+321del MANE Select	NP_003709.3:n.2182+310_2182+321del