Canonical Allele Identifier: CA1026636798

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220905-C-CTATTT
• gnomAD v4: 22-50220905-C-CTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220905_50220906insTATTT , CM000684.2:g.50220905_50220906insTATTT	GRCh38
NC_000022.10:g.50659334_50659335insTATTT , CM000684.1:g.50659334_50659335insTATTT	GRCh37
NC_000022.9:g.49001461_49001462insTATTT	NCBI36
NG_032160.1:g.29066_29067insAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3453_3454insAAATA MANE Select	ENSP00000248846.5:p.Ala1152LysfsTer2
ENST00000248846.9:c.3453_3454insAAATA	ENSP00000248846.5:p.Ala1152LysfsTer2
ENST00000439308.6:c.3453_3454insAAATA	ENSP00000397387.2:p.Ala1152LysfsTer2
ENST00000491449.5:n.1760_1761insAAATA
ENST00000498611.5:n.3617+369_3617+370insAAATA
NM_020461.3:c.3453_3454insAAATA	NP_065194.2:p.Ala1152LysfsTer2
XR_938347.1:n.4018_4019insAAATA
XR_938348.1:n.3050-891_3050-890insAAATA
XR_001755343.2:n.4022_4023insAAATA
XR_001755344.2:n.4022_4023insAAATA
XR_002958720.1:n.3054-891_3054-890insAAATA
XR_938347.2:n.4022_4023insAAATA
NM_020461.4:c.3453_3454insAAATA MANE Select	NP_065194.3:p.Ala1152LysfsTer2