Canonical Allele Identifier: CA10307868

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs751739072
• ExAC: 22:50659136 CAT / C
• gnomAD v2: 22-50659136-CAT-C
• gnomAD v3: 22-50220707-CAT-C
• gnomAD v4: 22-50220707-CAT-C
• MyVariant Identifiers: chr22:g.50659137_50659138del (hg19) ; chr22:g.50220708_50220709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220708_50220709del , CM000684.2:g.50220708_50220709del	GRCh38
NC_000022.10:g.50659137_50659138del , CM000684.1:g.50659137_50659138del	GRCh37
NC_000022.9:g.49001264_49001265del	NCBI36
NG_032160.1:g.29263_29264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3650_3651del MANE Select	ENSP00000248846.5:p.His1217ArgfsTer3
ENST00000248846.9:c.3650_3651del	ENSP00000248846.5:p.His1217ArgfsTer3
ENST00000439308.6:c.3650_3651del	ENSP00000397387.2:p.His1217ArgfsTer3
ENST00000491449.5:n.1957_1958del
ENST00000498611.5:n.3617+566_3617+567del
NM_020461.3:c.3650_3651del	NP_065194.2:p.His1217ArgfsTer3
XR_938347.1:n.4215_4216del
XR_938348.1:n.3050-694_3050-693del
XR_001755343.2:n.4219_4220del
XR_001755344.2:n.4219_4220del
XR_002958720.1:n.3054-694_3054-693del
XR_938347.2:n.4219_4220del
NM_020461.4:c.3650_3651del MANE Select	NP_065194.3:p.His1217ArgfsTer3