Canonical Allele Identifier: CA10308375

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs568177307
• ExAC: 22:50662895 C / CA
• gnomAD v2: 22-50662895-C-CA
• gnomAD v3: 22-50224466-C-CA
• gnomAD v4: 22-50224466-C-CA
• MyVariant Identifiers: chr22:g.50662895_50662896insA (hg19) ; chr22:g.50224466_50224467insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224468dup , CM000684.2:g.50224468dup	GRCh38
NC_000022.10:g.50662897dup , CM000684.1:g.50662897dup	GRCh37
NC_000022.9:g.49005024dup	NCBI36
NG_032160.1:g.25505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+44dup MANE Select	ENSP00000248846.5:n.2065+44dup
ENST00000248846.9:c.2065+44dup	ENSP00000248846.5:n.2065+44dup
ENST00000439308.6:c.2065+44dup	ENSP00000397387.2:n.2065+44dup
ENST00000473946.1:n.374+44dup
ENST00000489511.5:n.82+44dup
ENST00000491449.5:n.372+44dup
ENST00000498611.5:n.2598+44dup
NM_020461.3:c.2065+44dup	NP_065194.2:n.2065+44dup
XR_938347.1:n.2630+44dup
XR_938348.1:n.2630+44dup
XR_001755343.2:n.2634+44dup
XR_001755344.2:n.2634+44dup
XR_002958720.1:n.2634+44dup
XR_938347.2:n.2634+44dup
NM_020461.4:c.2065+44dup MANE Select	NP_065194.3:n.2065+44dup