Canonical Allele Identifier: CA10308051

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs749185024
• ExAC: 22:50659675 TC / T
• gnomAD v2: 22-50659675-TC-T
• gnomAD v4: 22-50221246-TC-T
• MyVariant Identifiers: chr22:g.50659676del (hg19) ; chr22:g.50221247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221250del , CM000684.2:g.50221250del	GRCh38
NC_000022.10:g.50659679del , CM000684.1:g.50659679del	GRCh37
NC_000022.9:g.49001806del	NCBI36
NG_032160.1:g.28725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3112del MANE Select	ENSP00000248846.5:p.Asp1038ThrfsTer6
ENST00000248846.9:c.3112del	ENSP00000248846.5:p.Asp1038ThrfsTer6
ENST00000439308.6:c.3112del	ENSP00000397387.2:p.Asp1038ThrfsTer6
ENST00000491449.5:n.1419del
ENST00000498611.5:n.3617+28del
NM_020461.3:c.3112del	NP_065194.2:p.Asp1038ThrfsTer6
XR_938347.1:n.3677del
XR_938348.1:n.3049+781del
XR_001755343.2:n.3681del
XR_001755344.2:n.3681del
XR_002958720.1:n.3053+781del
XR_938347.2:n.3681del
NM_020461.4:c.3112del MANE Select	NP_065194.3:p.Asp1038ThrfsTer6