Canonical Allele Identifier: CA1612892935

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699877_16699878delinsAT , CM000668.2:g.16699877_16699878delinsAT	GRCh38
NC_000006.11:g.16700108_16700109delinsAT , CM000668.1:g.16700108_16700109delinsAT	GRCh37
NC_000006.10:g.16808087_16808088delinsAT	NCBI36
NG_011571.1:g.66613_66614delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-614-41977_-614-41976delinsAT MANE Select	ENSP00000416360.1:n.-614-41977_-614-41976delinsAT
ENST00000643828.1:n.345-32326_345-32325delinsAT
ENST00000646259.1:n.189-41977_189-41976delinsAT
ENST00000675689.1:n.151-41977_151-41976delinsAT
ENST00000244769.8:c.-614-41977_-614-41976delinsAT	ENSP00000244769.3:n.-614-41977_-614-41976delinsAT
ENST00000436367.5:c.-614-41977_-614-41976delinsAT	ENSP00000416360.1:n.-614-41977_-614-41976delinsAT
ENST00000473388.6:n.279-41977_279-41976delinsAT
ENST00000483591.6:n.118-41977_118-41976delinsAT
ENST00000483954.1:n.160-32326_160-32325delinsAT
ENST00000495178.1:n.77-41977_77-41976delinsAT
NM_000332.3:c.-614-41977_-614-41976delinsAT	NP_000323.2:n.-614-41977_-614-41976delinsAT
NM_001128164.1:c.-614-41977_-614-41976delinsAT	NP_001121636.1:n.-614-41977_-614-41976delinsAT
NM_001357857.1:c.-643-41977_-643-41976delinsAT	NP_001344786.1:n.-643-41977_-643-41976delinsAT
NM_001357857.2:c.-643-41977_-643-41976delinsAT	NP_001344786.1:n.-643-41977_-643-41976delinsAT
NM_001128164.2:c.-614-41977_-614-41976delinsAT MANE Select	NP_001121636.1:n.-614-41977_-614-41976delinsAT
NM_000332.4:c.-614-41977_-614-41976delinsAT	NP_000323.2:n.-614-41977_-614-41976delinsAT