Canonical Allele Identifier: CA2657503862

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221240-GCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221241_50221243del , CM000684.2:g.50221241_50221243del	GRCh38
NC_000022.10:g.50659670_50659672del , CM000684.1:g.50659670_50659672del	GRCh37
NC_000022.9:g.49001797_49001799del	NCBI36
NG_032160.1:g.28729_28731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3116_3118del MANE Select	ENSP00000248846.5:p.Tyr1039_Ala1040delinsSer
ENST00000248846.9:c.3116_3118del	ENSP00000248846.5:p.Tyr1039_Ala1040delinsSer
ENST00000439308.6:c.3116_3118del	ENSP00000397387.2:p.Tyr1039_Ala1040delinsSer
ENST00000491449.5:n.1423_1425del
ENST00000498611.5:n.3617+32_3617+34del
NM_020461.3:c.3116_3118del	NP_065194.2:p.Tyr1039_Ala1040delinsSer
XR_938347.1:n.3681_3683del
XR_938348.1:n.3049+785_3049+787del
XR_001755343.2:n.3685_3687del
XR_001755344.2:n.3685_3687del
XR_002958720.1:n.3053+785_3053+787del
XR_938347.2:n.3685_3687del
NM_020461.4:c.3116_3118del MANE Select	NP_065194.3:p.Tyr1039_Ala1040delinsSer