Canonical Allele Identifier: CA822240788

Gene: ATXN1

Linked Data

• dbSNP Id: rs1327860971
• gnomAD v2: 6-16699909-TAAG-T
• gnomAD v3: 6-16699678-TAAG-T
• gnomAD v4: 6-16699678-TAAG-T
• MyVariant Identifiers: chr6:g.16699910_16699912del (hg19) ; chr6:g.16699679_16699681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699684_16699686del , CM000668.2:g.16699684_16699686del	GRCh38
NC_000006.11:g.16699915_16699917del , CM000668.1:g.16699915_16699917del	GRCh37
NC_000006.10:g.16807894_16807896del	NCBI36
NG_011571.1:g.66810_66812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-614-41780_-614-41778del MANE Select	ENSP00000416360.1:n.-614-41780_-614-41778del
ENST00000643828.1:n.345-32129_345-32127del
ENST00000646259.1:n.189-41780_189-41778del
ENST00000675689.1:n.151-41780_151-41778del
ENST00000244769.8:c.-614-41780_-614-41778del	ENSP00000244769.3:n.-614-41780_-614-41778del
ENST00000436367.5:c.-614-41780_-614-41778del	ENSP00000416360.1:n.-614-41780_-614-41778del
ENST00000473388.6:n.279-41780_279-41778del
ENST00000483591.6:n.118-41780_118-41778del
ENST00000483954.1:n.160-32129_160-32127del
ENST00000495178.1:n.77-41780_77-41778del
NM_000332.3:c.-614-41780_-614-41778del	NP_000323.2:n.-614-41780_-614-41778del
NM_001128164.1:c.-614-41780_-614-41778del	NP_001121636.1:n.-614-41780_-614-41778del
NM_001357857.1:c.-643-41780_-643-41778del	NP_001344786.1:n.-643-41780_-643-41778del
NM_001357857.2:c.-643-41780_-643-41778del	NP_001344786.1:n.-643-41780_-643-41778del
NM_001128164.2:c.-614-41780_-614-41778del MANE Select	NP_001121636.1:n.-614-41780_-614-41778del
NM_000332.4:c.-614-41780_-614-41778del	NP_000323.2:n.-614-41780_-614-41778del