Canonical Allele Identifier: CA565546731

Gene: ATXN1

Linked Data

• dbSNP Id: rs1341735246
• gnomAD v2: 6-16396914-C-CT
• gnomAD v3: 6-16396683-C-CT
• gnomAD v4: 6-16396683-C-CT
• MyVariant Identifiers: chr6:g.16396914_16396915insT (hg19) ; chr6:g.16396683_16396684insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396683_16396684insT , CM000668.2:g.16396683_16396684insT	GRCh38
NC_000006.11:g.16396914_16396915insT , CM000668.1:g.16396914_16396915insT	GRCh37
NC_000006.10:g.16504893_16504894insT	NCBI36
NG_011571.1:g.369807_369808insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68214_-160-68213insA MANE Select	ENSP00000416360.1:n.-160-68214_-160-68213insA
ENST00000244769.8:c.-160-68214_-160-68213insA	ENSP00000244769.3:n.-160-68214_-160-68213insA
ENST00000436367.5:c.-160-68214_-160-68213insA	ENSP00000416360.1:n.-160-68214_-160-68213insA
NM_000332.3:c.-160-68214_-160-68213insA	NP_000323.2:n.-160-68214_-160-68213insA
NM_001128164.1:c.-160-68214_-160-68213insA	NP_001121636.1:n.-160-68214_-160-68213insA
NM_001357857.1:c.-189-68214_-189-68213insA	NP_001344786.1:n.-189-68214_-189-68213insA
NM_001357857.2:c.-189-68214_-189-68213insA	NP_001344786.1:n.-189-68214_-189-68213insA
NM_001128164.2:c.-160-68214_-160-68213insA MANE Select	NP_001121636.1:n.-160-68214_-160-68213insA
NM_000332.4:c.-160-68214_-160-68213insA	NP_000323.2:n.-160-68214_-160-68213insA