Canonical Allele Identifier: CA1086394509

Gene: ATXN1

Linked Data

• dbSNP Id: rs1759247365
• gnomAD v3: 6-16699917-TA-T
• gnomAD v4: 6-16699917-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699923del , CM000668.2:g.16699923del	GRCh38
NC_000006.11:g.16700154del , CM000668.1:g.16700154del	GRCh37
NC_000006.10:g.16808133del	NCBI36
NG_011571.1:g.66573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-614-42017del MANE Select	ENSP00000416360.1:n.-614-42017del
ENST00000643828.1:n.345-32366del
ENST00000646259.1:n.189-42017del
ENST00000675689.1:n.151-42017del
ENST00000244769.8:c.-614-42017del	ENSP00000244769.3:n.-614-42017del
ENST00000436367.5:c.-614-42017del	ENSP00000416360.1:n.-614-42017del
ENST00000473388.6:n.279-42017del
ENST00000483591.6:n.118-42017del
ENST00000483954.1:n.160-32366del
ENST00000495178.1:n.77-42017del
NM_000332.3:c.-614-42017del	NP_000323.2:n.-614-42017del
NM_001128164.1:c.-614-42017del	NP_001121636.1:n.-614-42017del
NM_001357857.1:c.-643-42017del	NP_001344786.1:n.-643-42017del
NM_001357857.2:c.-643-42017del	NP_001344786.1:n.-643-42017del
NM_001128164.2:c.-614-42017del MANE Select	NP_001121636.1:n.-614-42017del
NM_000332.4:c.-614-42017del	NP_000323.2:n.-614-42017del