Canonical Allele Identifier: CA6550224

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1555162338
• ExAC: 12:49579326 CAG / C
• gnomAD v2: 12-49579326-CAG-C
• MyVariant Identifiers: chr12:g.49579327_49579328del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185544_49185545del , CM000674.2:g.49185544_49185545del	GRCh38
NC_000012.11:g.49579327_49579328del , CM000674.1:g.49579327_49579328del	GRCh37
NC_000012.10:g.47865594_47865595del	NCBI36
NG_008966.1:g.8534_8535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.821_822del MANE Select	ENSP00000301071.7:p.Pro274ArgfsTer5
ENST00000547939.6:c.716_717del	ENSP00000450268.2:p.Pro239ArgfsTer5
ENST00000550767.6:c.716_717del	ENSP00000446637.1:p.Pro239ArgfsTer5
ENST00000550811.2:n.1854_1855del
ENST00000552924.2:c.716_717del	ENSP00000448725.2:p.Pro239ArgfsTer5
ENST00000679733.1:c.*277_*278del	ENSP00000505459.1:n.*277_*278del
ENST00000295766.9:c.821_822del	ENSP00000439020.2:p.Pro274ArgfsTer5
ENST00000301071.11:c.821_822del	ENSP00000301071.7:p.Pro274ArgfsTer5
ENST00000550767.5:c.716_717del	ENSP00000446637.1:p.Pro239ArgfsTer5
NM_001270399.1:c.821_822del	NP_001257328.1:p.Pro274ArgfsTer5
NM_001270400.1:c.716_717del	NP_001257329.1:p.Pro239ArgfsTer5
NM_006009.3:c.821_822del	NP_006000.2:p.Pro274ArgfsTer5
NM_006009.4:c.821_822del MANE Select	NP_006000.2:p.Pro274ArgfsTer5
NM_001270399.2:c.821_822del	NP_001257328.1:p.Pro274ArgfsTer5
NM_001270400.2:c.716_717del	NP_001257329.1:p.Pro239ArgfsTer5