Canonical Allele Identifier: CA1612705681

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396612_16396614delinsCTT , CM000668.2:g.16396612_16396614delinsCTT	GRCh38
NC_000006.11:g.16396843_16396845delinsCTT , CM000668.1:g.16396843_16396845delinsCTT	GRCh37
NC_000006.10:g.16504822_16504824delinsCTT	NCBI36
NG_011571.1:g.369877_369879delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68144_-160-68142delinsAAG MANE Select	ENSP00000416360.1:n.-160-68144_-160-68142delinsAAG
ENST00000244769.8:c.-160-68144_-160-68142delinsAAG	ENSP00000244769.3:n.-160-68144_-160-68142delinsAAG
ENST00000436367.5:c.-160-68144_-160-68142delinsAAG	ENSP00000416360.1:n.-160-68144_-160-68142delinsAAG
NM_000332.3:c.-160-68144_-160-68142delinsAAG	NP_000323.2:n.-160-68144_-160-68142delinsAAG
NM_001128164.1:c.-160-68144_-160-68142delinsAAG	NP_001121636.1:n.-160-68144_-160-68142delinsAAG
NM_001357857.1:c.-189-68144_-189-68142delinsAAG	NP_001344786.1:n.-189-68144_-189-68142delinsAAG
NM_001357857.2:c.-189-68144_-189-68142delinsAAG	NP_001344786.1:n.-189-68144_-189-68142delinsAAG
NM_001128164.2:c.-160-68144_-160-68142delinsAAG MANE Select	NP_001121636.1:n.-160-68144_-160-68142delinsAAG
NM_000332.4:c.-160-68144_-160-68142delinsAAG	NP_000323.2:n.-160-68144_-160-68142delinsAAG