Canonical Allele Identifier: CA2555853160

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16741815_16741830del , CM000668.2:g.16741815_16741830del	GRCh38
NC_000006.11:g.16742046_16742061del , CM000668.1:g.16742046_16742061del	GRCh37
NC_000006.10:g.16850025_16850040del	NCBI36
NG_011571.1:g.24661_24676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-615+11403_-615+11418del MANE Select	ENSP00000416360.1:n.-615+11403_-615+11418del
ENST00000643828.1:n.344+11403_344+11418del
ENST00000646259.1:n.188+11403_188+11418del
ENST00000675689.1:n.150+11403_150+11418del
ENST00000676138.1:n.162-1912_162-1897del
ENST00000244769.8:c.-615+11403_-615+11418del	ENSP00000244769.3:n.-615+11403_-615+11418del
ENST00000436367.5:c.-615+11403_-615+11418del	ENSP00000416360.1:n.-615+11403_-615+11418del
ENST00000467008.5:n.295-1912_295-1897del
ENST00000473388.6:n.278+11403_278+11418del
ENST00000483591.6:n.117+8146_117+8161del
ENST00000483954.1:n.159+19468_159+19483del
ENST00000492857.1:n.331-1912_331-1897del
ENST00000495178.1:n.76+11403_76+11418del
ENST00000498374.1:n.195-1912_195-1897del
NM_000332.3:c.-615+11403_-615+11418del	NP_000323.2:n.-615+11403_-615+11418del
NM_001128164.1:c.-615+11403_-615+11418del	NP_001121636.1:n.-615+11403_-615+11418del
NM_001357857.1:c.-644+11403_-644+11418del	NP_001344786.1:n.-644+11403_-644+11418del
NR_152111.1:n.309-1912_309-1897del
NR_152112.1:n.194-1912_194-1897del
NR_152113.1:n.191-1912_191-1897del
NR_152114.1:n.240-1912_240-1897del
NM_001357857.2:c.-644+11403_-644+11418del	NP_001344786.1:n.-644+11403_-644+11418del
NR_152111.2:n.279-1912_279-1897del
NR_152112.2:n.164-1912_164-1897del
NR_152113.2:n.244-1912_244-1897del
NR_152114.2:n.293-1912_293-1897del
NM_001128164.2:c.-615+11403_-615+11418del MANE Select	NP_001121636.1:n.-615+11403_-615+11418del
NR_152111.3:n.279-1912_279-1897del
NR_152112.3:n.164-1912_164-1897del
NR_152113.3:n.244-1912_244-1897del
NR_152114.3:n.293-1912_293-1897del
NM_000332.4:c.-615+11403_-615+11418del	NP_000323.2:n.-615+11403_-615+11418del