Canonical Allele Identifier: CA1086368937

Gene: ATXN1

Linked Data

• gnomAD v3: 6-16396039-AGCCAATTAACTGT-A
• gnomAD v4: 6-16396039-AGCCAATTAACTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396040_16396052del , CM000668.2:g.16396040_16396052del	GRCh38
NC_000006.11:g.16396271_16396283del , CM000668.1:g.16396271_16396283del	GRCh37
NC_000006.10:g.16504250_16504262del	NCBI36
NG_011571.1:g.370439_370451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67582_-160-67570del MANE Select	ENSP00000416360.1:n.-160-67582_-160-67570del
ENST00000244769.8:c.-160-67582_-160-67570del	ENSP00000244769.3:n.-160-67582_-160-67570del
ENST00000436367.5:c.-160-67582_-160-67570del	ENSP00000416360.1:n.-160-67582_-160-67570del
NM_000332.3:c.-160-67582_-160-67570del	NP_000323.2:n.-160-67582_-160-67570del
NM_001128164.1:c.-160-67582_-160-67570del	NP_001121636.1:n.-160-67582_-160-67570del
NM_001357857.1:c.-189-67582_-189-67570del	NP_001344786.1:n.-189-67582_-189-67570del
NM_001357857.2:c.-189-67582_-189-67570del	NP_001344786.1:n.-189-67582_-189-67570del
NM_001128164.2:c.-160-67582_-160-67570del MANE Select	NP_001121636.1:n.-160-67582_-160-67570del
NM_000332.4:c.-160-67582_-160-67570del	NP_000323.2:n.-160-67582_-160-67570del