Canonical Allele Identifier: CA2657502458

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220765-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220767dup , CM000684.2:g.50220767dup	GRCh38
NC_000022.10:g.50659196dup , CM000684.1:g.50659196dup	GRCh37
NC_000022.9:g.49001323dup	NCBI36
NG_032160.1:g.29206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3593dup MANE Select	ENSP00000248846.5:p.Leu1198PhefsTer23
ENST00000248846.9:c.3593dup	ENSP00000248846.5:p.Leu1198PhefsTer23
ENST00000439308.6:c.3593dup	ENSP00000397387.2:p.Leu1198PhefsTer23
ENST00000491449.5:n.1900dup
ENST00000498611.5:n.3617+509dup
NM_020461.3:c.3593dup	NP_065194.2:p.Leu1198PhefsTer23
XR_938347.1:n.4158dup
XR_938348.1:n.3050-751dup
XR_001755343.2:n.4162dup
XR_001755344.2:n.4162dup
XR_002958720.1:n.3054-751dup
XR_938347.2:n.4162dup
NM_020461.4:c.3593dup MANE Select	NP_065194.3:p.Leu1198PhefsTer23