Canonical Allele Identifier: CA947439540

Gene: TUBA1A

Linked Data

• gnomAD v3: 12-49185619-AT-A
• gnomAD v4: 12-49185619-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185621del , CM000674.2:g.49185621del	GRCh38
NC_000012.11:g.49579404del , CM000674.1:g.49579404del	GRCh37
NC_000012.10:g.47865671del	NCBI36
NG_008966.1:g.8459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.746del MANE Select	ENSP00000301071.7:p.Asn249MetfsTer4
ENST00000547939.6:c.641del	ENSP00000450268.2:p.Asn214MetfsTer4
ENST00000550767.6:c.641del	ENSP00000446637.1:p.Asn214MetfsTer4
ENST00000550811.2:n.1779del
ENST00000552924.2:c.641del	ENSP00000448725.2:p.Asn214MetfsTer4
ENST00000679733.1:c.*202del	ENSP00000505459.1:n.*202del
ENST00000295766.9:c.746del	ENSP00000439020.2:p.Asn249MetfsTer4
ENST00000301071.11:c.746del	ENSP00000301071.7:p.Asn249MetfsTer4
ENST00000547939.5:c.641del	ENSP00000450268.1:p.Asn214MetfsTer4
ENST00000550767.5:c.641del	ENSP00000446637.1:p.Asn214MetfsTer4
NM_001270399.1:c.746del	NP_001257328.1:p.Asn249MetfsTer4
NM_001270400.1:c.641del	NP_001257329.1:p.Asn214MetfsTer4
NM_006009.3:c.746del	NP_006000.2:p.Asn249MetfsTer4
NM_006009.4:c.746del MANE Select	NP_006000.2:p.Asn249MetfsTer4
NM_001270399.2:c.746del	NP_001257328.1:p.Asn249MetfsTer4
NM_001270400.2:c.641del	NP_001257329.1:p.Asn214MetfsTer4