Canonical Allele Identifier: CA135357102

Gene: ATXN1

Linked Data

• dbSNP Id: rs764256034
• gnomAD v2: 6-16700015-C-CTG
• gnomAD v3: 6-16699784-C-CTG
• gnomAD v4: 6-16699784-C-CTG
• MyVariant Identifiers: chr6:g.16700015_16700016insTG (hg19) ; chr6:g.16699784_16699785insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699788_16699789dup , CM000668.2:g.16699788_16699789dup	GRCh38
NC_000006.11:g.16700019_16700020dup , CM000668.1:g.16700019_16700020dup	GRCh37
NC_000006.10:g.16807998_16807999dup	NCBI36
NG_011571.1:g.66705_66706dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-614-41885_-614-41884dup MANE Select	ENSP00000416360.1:n.-614-41885_-614-41884...
ENST00000643828.1:n.345-32234_345-32233dup
ENST00000646259.1:n.189-41885_189-41884dup
ENST00000675689.1:n.151-41885_151-41884dup
ENST00000244769.8:c.-614-41885_-614-41884dup	ENSP00000244769.3:n.-614-41885_-614-41884...
ENST00000436367.5:c.-614-41885_-614-41884dup	ENSP00000416360.1:n.-614-41885_-614-41884...
ENST00000473388.6:n.279-41885_279-41884dup
ENST00000483591.6:n.118-41885_118-41884dup
ENST00000483954.1:n.160-32234_160-32233dup
ENST00000495178.1:n.77-41885_77-41884dup
NM_000332.3:c.-614-41885_-614-41884dup	NP_000323.2:n.-614-41885_-614-41884dup
NM_001128164.1:c.-614-41885_-614-41884dup	NP_001121636.1:n.-614-41885_-614-41884dup...
NM_001357857.1:c.-643-41885_-643-41884dup	NP_001344786.1:n.-643-41885_-643-41884dup...
NM_001357857.2:c.-643-41885_-643-41884dup	NP_001344786.1:n.-643-41885_-643-41884dup...
NM_001128164.2:c.-614-41885_-614-41884dup MANE Select	NP_001121636.1:n.-614-41885_-614-41884dup...
NM_000332.4:c.-614-41885_-614-41884dup	NP_000323.2:n.-614-41885_-614-41884dup