Canonical Allele Identifier: CA640353802

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064513647
• gnomAD v2: 22-50659481-GTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G
• gnomAD v3: 22-50221052-GTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G
• gnomAD v4: 22-50221052-GTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G
• MyVariant Identifiers: chr22:g.50659482_50659617del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221053_50221188del , CM000684.2:g.50221053_50221188del	GRCh38
NC_000022.10:g.50659482_50659617del , CM000684.1:g.50659482_50659617del	GRCh37
NC_000022.9:g.49001609_49001744del	NCBI36
NG_032160.1:g.28784_28919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.3171_3306del MANE Select	ENSP00000248846.5:p.Asp1058GlyfsTer?
ENST00000248846.9:c.3171_3306del	ENSP00000248846.5:p.Asp1058GlyfsTer?
ENST00000439308.6:c.3171_3306del	ENSP00000397387.2:p.Asp1058GlyfsTer?
ENST00000491449.5:n.1478_1613del
ENST00000498611.5:n.3617+87_3617+222del
NM_020461.3:c.3171_3306del	NP_065194.2:p.Asp1058GlyfsTer?
XR_938347.1:n.3736_3871del
XR_938348.1:n.3049+840_3049+975del
XR_001755343.2:n.3740_3875del
XR_001755344.2:n.3740_3875del
XR_002958720.1:n.3053+840_3053+975del
XR_938347.2:n.3740_3875del
NM_020461.4:c.3171_3306del MANE Select	NP_065194.3:p.Asp1058GlyfsTer?