Canonical Allele Identifier: CA2657501895

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220510-TGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220514_50220517del , CM000684.2:g.50220514_50220517del	GRCh38
NC_000022.10:g.50658943_50658946del , CM000684.1:g.50658943_50658946del	GRCh37
NC_000022.9:g.49001070_49001073del	NCBI36
NG_032160.1:g.29458_29461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3845_3848del MANE Select	ENSP00000248846.5:p.Leu1282HisfsTer?
ENST00000248846.9:c.3845_3848del	ENSP00000248846.5:p.Leu1282HisfsTer?
ENST00000439308.6:c.3845_3848del	ENSP00000397387.2:p.Leu1282HisfsTer?
ENST00000491449.5:n.2152_2155del
ENST00000498611.5:n.3618-499_3618-496del
NM_020461.3:c.3845_3848del	NP_065194.2:p.Leu1282HisfsTer?
XR_938347.1:n.4410_4413del
XR_938348.1:n.3050-499_3050-496del
XR_001755343.2:n.4414_4417del
XR_001755344.2:n.4414_4417del
XR_002958720.1:n.3054-499_3054-496del
XR_938347.2:n.4414_4417del
NM_020461.4:c.3845_3848del MANE Select	NP_065194.3:p.Leu1282HisfsTer?