Canonical Allele Identifier: CA515376267

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1375752200
• gnomAD v2: 22-50658845-GCACAGTGCTCTGT-G
• gnomAD v4: 22-50220416-GCACAGTGCTCTGT-G
• MyVariant Identifiers: chr22:g.50658846_50658858del (hg19) ; chr22:g.50220417_50220429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220417_50220429del , CM000684.2:g.50220417_50220429del	GRCh38
NC_000022.10:g.50658846_50658858del , CM000684.1:g.50658846_50658858del	GRCh37
NC_000022.9:g.49000973_49000985del	NCBI36
NG_032160.1:g.29543_29555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3930_3942del MANE Select	ENSP00000248846.5:p.Gln1311TrpfsTer9
ENST00000248846.9:c.3930_3942del	ENSP00000248846.5:p.Gln1311TrpfsTer9
ENST00000439308.6:c.3930_3942del	ENSP00000397387.2:p.Gln1311TrpfsTer9
ENST00000491449.5:n.2237_2249del
ENST00000498611.5:n.3618-414_3618-402del
NM_020461.3:c.3930_3942del	NP_065194.2:p.Gln1311TrpfsTer9
XR_938347.1:n.4495_4507del
XR_938348.1:n.3050-414_3050-402del
XR_001755343.2:n.4499_4511del
XR_001755344.2:n.4499_4511del
XR_002958720.1:n.3054-414_3054-402del
XR_938347.2:n.4499_4511del
NM_020461.4:c.3930_3942del MANE Select	NP_065194.3:p.Gln1311TrpfsTer9