Canonical Allele Identifier: CA640353767

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064509694
• gnomAD v2: 22-50659325-GGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
• gnomAD v3: 22-50220896-GGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
• gnomAD v4: 22-50220896-GGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
• MyVariant Identifiers: chr22:g.50659326_50659406del (hg19) ; chr22:g.50220897_50220977del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220909_50220989del , CM000684.2:g.50220909_50220989del	GRCh38
NC_000022.10:g.50659338_50659418del , CM000684.1:g.50659338_50659418del	GRCh37
NC_000022.9:g.49001465_49001545del	NCBI36
NG_032160.1:g.28995_29075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3382_3462del MANE Select	ENSP00000248846.5:p.Arg1128_Thr1154del
ENST00000248846.9:c.3382_3462del	ENSP00000248846.5:p.Arg1128_Thr1154del
ENST00000439308.6:c.3382_3462del	ENSP00000397387.2:p.Arg1128_Thr1154del
ENST00000491449.5:n.1689_1769del
ENST00000498611.5:n.3617+298_3617+378del
NM_020461.3:c.3382_3462del	NP_065194.2:p.Arg1128_Thr1154del
XR_938347.1:n.3947_4027del
XR_938348.1:n.3050-962_3050-882del
XR_001755343.2:n.3951_4031del
XR_001755344.2:n.3951_4031del
XR_002958720.1:n.3054-962_3054-882del
XR_938347.2:n.3951_4031del
NM_020461.4:c.3382_3462del MANE Select	NP_065194.3:p.Arg1128_Thr1154del