Canonical Allele Identifier: CA1026636739

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220880-GTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGA-G
• gnomAD v4: 22-50220880-GTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220897_50221058del , CM000684.2:g.50220897_50221058del	GRCh38
NC_000022.10:g.50659326_50659487del , CM000684.1:g.50659326_50659487del	GRCh37
NC_000022.9:g.49001453_49001614del	NCBI36
NG_032160.1:g.28930_29091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3317_3478del MANE Select	ENSP00000248846.5:p.Ile1106_Asn1159del
ENST00000248846.9:c.3317_3478del	ENSP00000248846.5:p.Ile1106_Asn1159del
ENST00000439308.6:c.3317_3478del	ENSP00000397387.2:p.Ile1106_Asn1159del
ENST00000491449.5:n.1624_1785del
ENST00000498611.5:n.3617+233_3617+394del
NM_020461.3:c.3317_3478del	NP_065194.2:p.Ile1106_Asn1159del
XR_938347.1:n.3882_4043del
XR_938348.1:n.3049+986_3050-866del
XR_001755343.2:n.3886_4047del
XR_001755344.2:n.3886_4047del
XR_002958720.1:n.3053+986_3054-866del
XR_938347.2:n.3886_4047del
NM_020461.4:c.3317_3478del MANE Select	NP_065194.3:p.Ile1106_Asn1159del