Canonical Allele Identifier: CA640353760

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1214095265
• gnomAD v2: 22-50659198-CT-C
• gnomAD v4: 22-50220769-CT-C
• MyVariant Identifiers: chr22:g.50659199del (hg19) ; chr22:g.50220770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220770del , CM000684.2:g.50220770del	GRCh38
NC_000022.10:g.50659199del , CM000684.1:g.50659199del	GRCh37
NC_000022.9:g.49001326del	NCBI36
NG_032160.1:g.29202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3589del MANE Select	ENSP00000248846.5:p.Ser1197AlafsTer?
ENST00000248846.9:c.3589del	ENSP00000248846.5:p.Ser1197AlafsTer?
ENST00000439308.6:c.3589del	ENSP00000397387.2:p.Ser1197AlafsTer?
ENST00000491449.5:n.1896del
ENST00000498611.5:n.3617+505del
NM_020461.3:c.3589del	NP_065194.2:p.Ser1197AlafsTer?
XR_938347.1:n.4154del
XR_938348.1:n.3050-755del
XR_001755343.2:n.4158del
XR_001755344.2:n.4158del
XR_002958720.1:n.3054-755del
XR_938347.2:n.4158del
NM_020461.4:c.3589del MANE Select	NP_065194.3:p.Ser1197AlafsTer?