Canonical Allele Identifier: CA2657502387

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220748-T-TAGTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220748_50220749insAGTCCC , CM000684.2:g.50220748_50220749insAGTCCC	GRCh38
NC_000022.10:g.50659177_50659178insAGTCCC , CM000684.1:g.50659177_50659178insAGTCCC	GRCh37
NC_000022.9:g.49001304_49001305insAGTCCC	NCBI36
NG_032160.1:g.29223_29224insGGGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3610_3611insGGGACT MANE Select	ENSP00000248846.5:p.Asp1204delinsGlyAspTyr
ENST00000248846.9:c.3610_3611insGGGACT	ENSP00000248846.5:p.Asp1204delinsGlyAspTyr
ENST00000439308.6:c.3610_3611insGGGACT	ENSP00000397387.2:p.Asp1204delinsGlyAspTyr
ENST00000491449.5:n.1917_1918insGGGACT
ENST00000498611.5:n.3617+526_3617+527insGGGACT
NM_020461.3:c.3610_3611insGGGACT	NP_065194.2:p.Asp1204delinsGlyAspTyr
XR_938347.1:n.4175_4176insGGGACT
XR_938348.1:n.3050-734_3050-733insGGGACT
XR_001755343.2:n.4179_4180insGGGACT
XR_001755344.2:n.4179_4180insGGGACT
XR_002958720.1:n.3054-734_3054-733insGGGACT
XR_938347.2:n.4179_4180insGGGACT
NM_020461.4:c.3610_3611insGGGACT MANE Select	NP_065194.3:p.Asp1204delinsGlyAspTyr