Canonical Allele Identifier: CA134935470

Gene: ATXN1

Linked Data

• dbSNP Id: rs749738695
• gnomAD v2: 6-16396490-T-TA
• gnomAD v3: 6-16396259-T-TA
• gnomAD v4: 6-16396259-T-TA
• MyVariant Identifiers: chr6:g.16396492_16396493insA (hg19) ; chr6:g.16396490_16396491insA (hg19) ; chr6:g.16396261_16396262insA (hg38) ; chr6:g.16396259_16396260insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396271dup , CM000668.2:g.16396271dup	GRCh38
NC_000006.11:g.16396502dup , CM000668.1:g.16396502dup	GRCh37
NC_000006.10:g.16504481dup	NCBI36
NG_011571.1:g.370231dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-160-67790dup MANE Select	ENSP00000416360.1:n.-160-67790dup
ENST00000244769.8:c.-160-67790dup	ENSP00000244769.3:n.-160-67790dup
ENST00000436367.5:c.-160-67790dup	ENSP00000416360.1:n.-160-67790dup
NM_000332.3:c.-160-67790dup	NP_000323.2:n.-160-67790dup
NM_001128164.1:c.-160-67790dup	NP_001121636.1:n.-160-67790dup
NM_001357857.1:c.-189-67790dup	NP_001344786.1:n.-189-67790dup
NM_001357857.2:c.-189-67790dup	NP_001344786.1:n.-189-67790dup
NM_001128164.2:c.-160-67790dup MANE Select	NP_001121636.1:n.-160-67790dup
NM_000332.4:c.-160-67790dup	NP_000323.2:n.-160-67790dup