Canonical Allele Identifier: CA1086368722

Gene: ATXN1

Linked Data

• gnomAD v3: 6-16396013-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 6-16396013-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396039_16396040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.2:g.16396039_16396040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000006.11:g.16396270_16396271insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.1:g.16396270_16396271insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000006.10:g.16504249_16504250insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_011571.1:g.370477_370478insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000416360.1:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTT...
ENST00000244769.8:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000244769.3:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTT...
ENST00000436367.5:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000416360.1:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTT...
NM_000332.3:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000323.2:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001128164.1:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001121636.1:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTT...
NM_001357857.1:c.-189-67544_-189-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001344786.1:n.-189-67544_-189-67543insTTTTTTTTTTTTTTTTTTTT...
NM_001357857.2:c.-189-67544_-189-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001344786.1:n.-189-67544_-189-67543insTTTTTTTTTTTTTTTTTTTT...
NM_001128164.2:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001121636.1:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTT...
NM_000332.4:c.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000323.2:n.-160-67544_-160-67543insTTTTTTTTTTTTTTTTTTTTTTT...