Canonical Allele Identifier: CA65995077
Community Standard Title: NM_006000.3(TUBA4A):c.4-312_4-311insT
Gene: TUBA4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219252541_219252542insA , CM000664.2:g.219252541_219252542insA GRCh38
NC_000002.11:g.220117263_220117264insA , CM000664.1:g.220117263_220117264insA GRCh37
NC_000002.10:g.219825507_219825508insA NCBI36
NG_029913.1:g.6375_6376insT

Transcript Alleles

HGVS Amino-acid Change
NM_006000.3:c.4-312_4-311insT MANE Select NP_005991.1:n.4-312_4-311insT
ENST00000248437.9:c.4-312_4-311insT MANE Select ENSP00000248437.4:n.4-312_4-311insT
NM_001278552.1:c.-42-312_-42-311insT NP_001265481.1:n.-42-312_-42-311insT
NM_001278552.2:c.-42-312_-42-311insT NP_001265481.1:n.-42-312_-42-311insT
NM_006000.2:c.4-312_4-311insT NP_005991.1:n.4-312_4-311insT
ENST00000248437.8:c.4-312_4-311insT ENSP00000248437.4:n.4-312_4-311insT
ENST00000392088.6:c.-42-312_-42-311insT ENSP00000375938.2:n.-42-312_-42-311insT
ENST00000398989.2:c.-84-1219_-84-1218insT ENSP00000396212.1:n.-84-1219_-84-1218insT
ENST00000425551.1:c.9+237_9+238insT ENSP00000404740.1:n.9+237_9+238insT
ENST00000427737.5:c.-42-312_-42-311insT ENSP00000408194.1:n.-42-312_-42-311insT
ENST00000427737.6:c.-42-312_-42-311insT ENSP00000408194.1:n.-42-312_-42-311insT
ENST00000447205.1:c.-42-312_-42-311insT ENSP00000396061.1:n.-42-312_-42-311insT
ENST00000456818.5:c.73-312_73-311insT ENSP00000416992.1:n.73-312_73-311insT
ENST00000462806.5:n.62-312_62-311insT
ENST00000475683.1:n.62-312_62-311insT
ENST00000498660.1:n.47-829_47-828insT
XM_005246832.1:c.-42-312_-42-311insT XP_005246889.1:n.-42-312_-42-311insT
XM_017004824.1:c.-233-829_-233-828insT XP_016860313.1:n.-233-829_-233-828insT