Canonical Allele Identifier: CA135357099

Gene: ATXN1

Linked Data

• dbSNP Id: rs58665157
• gnomAD v2: 6-16700000-CTGAG-C
• gnomAD v3: 6-16699769-CTGAG-C
• gnomAD v4: 6-16699769-CTGAG-C
• MyVariant Identifiers: chr6:g.16700001_16700004del (hg19) ; chr6:g.16699770_16699773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699771_16699774del , CM000668.2:g.16699771_16699774del	GRCh38
NC_000006.11:g.16700002_16700005del , CM000668.1:g.16700002_16700005del	GRCh37
NC_000006.10:g.16807981_16807984del	NCBI36
NG_011571.1:g.66718_66721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-614-41872_-614-41869del MANE Select	ENSP00000416360.1:n.-614-41872_-614-41869del
ENST00000643828.1:n.345-32221_345-32218del
ENST00000646259.1:n.189-41872_189-41869del
ENST00000675689.1:n.151-41872_151-41869del
ENST00000244769.8:c.-614-41872_-614-41869del	ENSP00000244769.3:n.-614-41872_-614-41869del
ENST00000436367.5:c.-614-41872_-614-41869del	ENSP00000416360.1:n.-614-41872_-614-41869del
ENST00000473388.6:n.279-41872_279-41869del
ENST00000483591.6:n.118-41872_118-41869del
ENST00000483954.1:n.160-32221_160-32218del
ENST00000495178.1:n.77-41872_77-41869del
NM_000332.3:c.-614-41872_-614-41869del	NP_000323.2:n.-614-41872_-614-41869del
NM_001128164.1:c.-614-41872_-614-41869del	NP_001121636.1:n.-614-41872_-614-41869del
NM_001357857.1:c.-643-41872_-643-41869del	NP_001344786.1:n.-643-41872_-643-41869del
NM_001357857.2:c.-643-41872_-643-41869del	NP_001344786.1:n.-643-41872_-643-41869del
NM_001128164.2:c.-614-41872_-614-41869del MANE Select	NP_001121636.1:n.-614-41872_-614-41869del
NM_000332.4:c.-614-41872_-614-41869del	NP_000323.2:n.-614-41872_-614-41869del