Canonical Allele Identifier: CA1026636506

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064504157
• gnomAD v3: 22-50220702-A-ATTG
• gnomAD v4: 22-50220702-A-ATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220702_50220703insTTG , CM000684.2:g.50220702_50220703insTTG	GRCh38
NC_000022.10:g.50659131_50659132insTTG , CM000684.1:g.50659131_50659132insTTG	GRCh37
NC_000022.9:g.49001258_49001259insTTG	NCBI36
NG_032160.1:g.29269_29270insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3656_3657insCAA MANE Select	ENSP00000248846.5:p.Ser1219_Asp1220insAsn
ENST00000248846.9:c.3656_3657insCAA	ENSP00000248846.5:p.Ser1219_Asp1220insAsn
ENST00000439308.6:c.3656_3657insCAA	ENSP00000397387.2:p.Ser1219_Asp1220insAsn
ENST00000491449.5:n.1963_1964insCAA
ENST00000498611.5:n.3617+572_3617+573insCAA
NM_020461.3:c.3656_3657insCAA	NP_065194.2:p.Ser1219_Asp1220insAsn
XR_938347.1:n.4221_4222insCAA
XR_938348.1:n.3050-688_3050-687insCAA
XR_001755343.2:n.4225_4226insCAA
XR_001755344.2:n.4225_4226insCAA
XR_002958720.1:n.3054-688_3054-687insCAA
XR_938347.2:n.4225_4226insCAA
NM_020461.4:c.3656_3657insCAA MANE Select	NP_065194.3:p.Ser1219_Asp1220insAsn