Canonical Allele Identifier: CA2813439742
Gene: TUBB4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495757_6495759del , CM000681.2:g.6495757_6495759del GRCh38
NC_000019.9:g.6495768_6495770del , CM000681.1:g.6495768_6495770del GRCh37
NC_000019.8:g.6446768_6446770del NCBI36
NG_033896.1:g.12090_12092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.740_742del MANE Select ENSP00000264071.1:p.Asn247_Ala248delinsThr
ENST00000264071.6:c.740_742del ENSP00000264071.1:p.Asn247_Ala248delinsThr
ENST00000540257.5:c.740_742del ENSP00000443590.1:p.Asn247_Ala248delinsThr
ENST00000594276.5:c.428_430del ENSP00000472481.1:p.Asn143_Ala144delinsThr
NM_001289123.1:c.893_895del NP_001276052.1:p.Asn298_Ala299delinsThr
NM_001289127.1:c.875_877del NP_001276056.1:p.Asn292_Ala293delinsThr
NM_001289129.1:c.740_742del NP_001276058.1:p.Asn247_Ala248delinsThr
NM_001289130.1:c.524_526del NP_001276059.1:p.Asn175_Ala176delinsThr
NM_001289131.1:c.524_526del NP_001276060.1:p.Asn175_Ala176delinsThr
NM_006087.3:c.740_742del NP_006078.2:p.Asn247_Ala248delinsThr
NM_006087.4:c.740_742del MANE Select NP_006078.2:p.Asn247_Ala248delinsThr
NM_001289123.2:c.893_895del NP_001276052.1:p.Asn298_Ala299delinsThr
NM_001289127.2:c.875_877del NP_001276056.1:p.Asn292_Ala293delinsThr
NM_001289129.2:c.740_742del NP_001276058.1:p.Asn247_Ala248delinsThr
NM_001289130.2:c.524_526del NP_001276059.1:p.Asn175_Ala176delinsThr
NM_001289131.2:c.524_526del NP_001276060.1:p.Asn175_Ala176delinsThr