Canonical Allele Identifier: CA2657502027

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220667-T-TGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220667_50220668insGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA , CM000684.2:g.50220667_50220668insGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA	GRCh38
NC_000022.10:g.50659096_50659097insGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA , CM000684.1:g.50659096_50659097insGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA	GRCh37
NC_000022.9:g.49001223_49001224insGTGTGCAGGTGTGCAGGGCAATGTCATGTGTATGGACCAGGGGA	NCBI36
NG_032160.1:g.29304_29305insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3691_3692insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC MANE Select	ENSP00000248846.5:p.Asp1231ValfsTer?
ENST00000248846.9:c.3691_3692insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC	ENSP00000248846.5:p.Asp1231ValfsTer?
ENST00000439308.6:c.3691_3692insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC	ENSP00000397387.2:p.Asp1231ValfsTer?
ENST00000491449.5:n.1998_1999insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
ENST00000498611.5:n.3617+607_3617+608insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
NM_020461.3:c.3691_3692insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC	NP_065194.2:p.Asp1231ValfsTer?
XR_938347.1:n.4256_4257insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
XR_938348.1:n.3050-653_3050-652insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
XR_001755343.2:n.4260_4261insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
XR_001755344.2:n.4260_4261insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
XR_002958720.1:n.3054-653_3054-652insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
XR_938347.2:n.4260_4261insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC
NM_020461.4:c.3691_3692insTCCCCTGGTCCATACACATGACATTGCCCTGCACACCTGCACAC MANE Select	NP_065194.3:p.Asp1231ValfsTer?