Canonical Allele Identifier: CA2657503373

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221127-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221130_50221132del , CM000684.2:g.50221130_50221132del	GRCh38
NC_000022.10:g.50659559_50659561del , CM000684.1:g.50659559_50659561del	GRCh37
NC_000022.9:g.49001686_49001688del	NCBI36
NG_032160.1:g.28842_28844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3229_3231del MANE Select	ENSP00000248846.5:p.Trp1077del
ENST00000248846.9:c.3229_3231del	ENSP00000248846.5:p.Trp1077del
ENST00000439308.6:c.3229_3231del	ENSP00000397387.2:p.Trp1077del
ENST00000491449.5:n.1536_1538del
ENST00000498611.5:n.3617+145_3617+147del
NM_020461.3:c.3229_3231del	NP_065194.2:p.Trp1077del
XR_938347.1:n.3794_3796del
XR_938348.1:n.3049+898_3049+900del
XR_001755343.2:n.3798_3800del
XR_001755344.2:n.3798_3800del
XR_002958720.1:n.3053+898_3053+900del
XR_938347.2:n.3798_3800del
NM_020461.4:c.3229_3231del MANE Select	NP_065194.3:p.Trp1077del