Canonical Allele Identifier: CA2657501904
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50220561-CCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220569_50220649del , CM000684.2:g.50220569_50220649del GRCh38
NC_000022.10:g.50658998_50659078del , CM000684.1:g.50658998_50659078del GRCh37
NC_000022.9:g.49001125_49001205del NCBI36
NG_032160.1:g.29330_29410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3717_3797del MANE Select ENSP00000248846.5:p.Cys1239_Arg1265del
ENST00000248846.9:c.3717_3797del ENSP00000248846.5:p.Cys1239_Arg1265del
ENST00000439308.6:c.3717_3797del ENSP00000397387.2:p.Cys1239_Arg1265del
ENST00000491449.5:n.2024_2104del
ENST00000498611.5:n.3618-627_3618-547del
NM_020461.3:c.3717_3797del NP_065194.2:p.Cys1239_Arg1265del
XR_938347.1:n.4282_4362del
XR_938348.1:n.3050-627_3050-547del
XR_001755343.2:n.4286_4366del
XR_001755344.2:n.4286_4366del
XR_002958720.1:n.3054-627_3054-547del
XR_938347.2:n.4286_4366del
NM_020461.4:c.3717_3797del MANE Select NP_065194.3:p.Cys1239_Arg1265del
Search 100 bp 5'
Search 100 bp 3'