Canonical Allele Identifier: CA821903271

Gene: ATXN1

Linked Data

• dbSNP Id: rs111829323
• gnomAD v3: 6-16396272-CTT-C
• gnomAD v4: 6-16396272-CTT-C
• MyVariant Identifiers: chr6:g.16396504_16396505del (hg19) ; chr6:g.16396273_16396274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396278_16396279del , CM000668.2:g.16396278_16396279del	GRCh38
NC_000006.11:g.16396509_16396510del , CM000668.1:g.16396509_16396510del	GRCh37
NC_000006.10:g.16504488_16504489del	NCBI36
NG_011571.1:g.370217_370218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67804_-160-67803del MANE Select	ENSP00000416360.1:n.-160-67804_-160-67803del
ENST00000244769.8:c.-160-67804_-160-67803del	ENSP00000244769.3:n.-160-67804_-160-67803del
ENST00000436367.5:c.-160-67804_-160-67803del	ENSP00000416360.1:n.-160-67804_-160-67803del
NM_000332.3:c.-160-67804_-160-67803del	NP_000323.2:n.-160-67804_-160-67803del
NM_001128164.1:c.-160-67804_-160-67803del	NP_001121636.1:n.-160-67804_-160-67803del
NM_001357857.1:c.-189-67804_-189-67803del	NP_001344786.1:n.-189-67804_-189-67803del
NM_001357857.2:c.-189-67804_-189-67803del	NP_001344786.1:n.-189-67804_-189-67803del
NM_001128164.2:c.-160-67804_-160-67803del MANE Select	NP_001121636.1:n.-160-67804_-160-67803del
NM_000332.4:c.-160-67804_-160-67803del	NP_000323.2:n.-160-67804_-160-67803del