Canonical Allele Identifier: CA2657504087

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221294-G-GCCTAGGAAAACCAGAGACCTTTGTTCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221294_50221295insCCTAGGAAAACCAGAGACCTTTGTTCACT , CM000684.2:g.50221294_50221295insCCTAGGAAAACCAGAGACCTTTGTTCACT	GRCh38
NC_000022.10:g.50659723_50659724insCCTAGGAAAACCAGAGACCTTTGTTCACT , CM000684.1:g.50659723_50659724insCCTAGGAAAACCAGAGACCTTTGTTCACT	GRCh37
NC_000022.9:g.49001850_49001851insCCTAGGAAAACCAGAGACCTTTGTTCACT	NCBI36
NG_032160.1:g.28677_28678insAGTGAACAAAGGTCTCTGGTTTTCCTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3064_3065insAGTGAACAAAGGTCTCTGGTTTTCCTAGG MANE Select	ENSP00000248846.5:p.Thr1022LysfsTer2
ENST00000248846.9:c.3064_3065insAGTGAACAAAGGTCTCTGGTTTTCCTAGG	ENSP00000248846.5:p.Thr1022LysfsTer2
ENST00000439308.6:c.3064_3065insAGTGAACAAAGGTCTCTGGTTTTCCTAGG	ENSP00000397387.2:p.Thr1022LysfsTer2
ENST00000491449.5:n.1371_1372insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
ENST00000498611.5:n.3597_3598insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
NM_020461.3:c.3064_3065insAGTGAACAAAGGTCTCTGGTTTTCCTAGG	NP_065194.2:p.Thr1022LysfsTer2
XR_938347.1:n.3629_3630insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
XR_938348.1:n.3049+733_3049+734insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
XR_001755343.2:n.3633_3634insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
XR_001755344.2:n.3633_3634insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
XR_002958720.1:n.3053+733_3053+734insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
XR_938347.2:n.3633_3634insAGTGAACAAAGGTCTCTGGTTTTCCTAGG
NM_020461.4:c.3064_3065insAGTGAACAAAGGTCTCTGGTTTTCCTAGG MANE Select	NP_065194.3:p.Thr1022LysfsTer2