Canonical Allele Identifier: CA2806421861

Gene: ATXN2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28836298_28836299dup , CM000678.2:g.28836298_28836299dup	GRCh38
NC_000016.9:g.28847619_28847620dup , CM000678.1:g.28847619_28847620dup	GRCh37
NC_000016.8:g.28755120_28755121dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336783.9:c.*33_*34dup MANE Select	ENSP00000338718.4:n.*33_*34dup
ENST00000325215.10:c.3139+122_3139+123dup	ENSP00000315650.6:n.3139+122_3139+123dup
ENST00000336783.8:c.*33_*34dup	ENSP00000338718.4:n.*33_*34dup
ENST00000340394.12:c.3085+176_3085+177dup	ENSP00000341459.8:n.3085+176_3085+177dup
ENST00000382686.8:c.3085+176_3085+177dup	ENSP00000372133.4:n.3085+176_3085+177dup
ENST00000395547.6:c.3140-28_3140-27dup	ENSP00000378917.2:n.3140-28_3140-27dup
ENST00000562583.5:c.1236_1237dup	ENSP00000456162.2:n.1236_1237dup
ENST00000563314.5:n.3635_3636dup
ENST00000564162.1:c.280+176_280+177dup	ENSP00000455427.1:n.280+176_280+177dup
ENST00000564304.5:c.3157+122_3157+123dup	ENSP00000457613.1:n.3157+122_3157+123dup
ENST00000565971.5:c.2325_2326dup	ENSP00000457599.1:n.2325_2326dup
ENST00000566007.5:c.355-151_355-150dup
ENST00000566946.5:c.1239_1240dup	ENSP00000454757.1:n.1239_1240dup
ENST00000570200.5:c.3139+122_3139+123dup	ENSP00000454516.1:n.3139+122_3139+123dup
NM_001308230.1:c.3157+122_3157+123dup	NP_001295159.1:n.3157+122_3157+123dup
NM_007245.3:c.*33_*34dup	NP_009176.2:n.*33_*34dup
NM_017492.3:c.3139+122_3139+123dup	NP_059867.3:n.3139+122_3139+123dup
NM_145714.2:c.3139+122_3139+123dup	NP_663760.1:n.3139+122_3139+123dup
NM_148414.2:c.3140-28_3140-27dup	NP_680780.1:n.3140-28_3140-27dup
NM_148415.2:c.3085+176_3085+177dup	NP_680781.1:n.3085+176_3085+177dup
NM_148416.2:c.3085+176_3085+177dup	NP_680782.1:n.3085+176_3085+177dup
XM_005255061.1:c.3161-28_3161-27dup	XP_005255118.1:n.3161-28_3161-27dup
XM_005255062.1:c.3161-28_3161-27dup	XP_005255119.1:n.3161-28_3161-27dup
XM_005255063.2:c.3161-28_3161-27dup	XP_005255120.1:n.3161-28_3161-27dup
XM_005255064.1:c.3158-28_3158-27dup	XP_005255121.1:n.3158-28_3158-27dup
XM_005255065.1:c.3143-28_3143-27dup	XP_005255122.1:n.3143-28_3143-27dup
XM_005255066.1:c.3140-28_3140-27dup	XP_005255123.1:n.3140-28_3140-27dup
XM_005255067.1:c.3107-28_3107-27dup	XP_005255124.1:n.3107-28_3107-27dup
XM_005255068.1:c.3107-28_3107-27dup	XP_005255125.1:n.3107-28_3107-27dup
XM_005255069.1:c.*33_*34dup	XP_005255126.1:n.*33_*34dup
XM_005255070.1:c.3160+122_3160+123dup	XP_005255127.1:n.3160+122_3160+123dup
XM_005255071.1:c.3160+122_3160+123dup	XP_005255128.1:n.3160+122_3160+123dup
XM_005255074.1:c.3106+176_3106+177dup	XP_005255131.1:n.3106+176_3106+177dup
XM_005255075.1:c.3106+176_3106+177dup	XP_005255132.1:n.3106+176_3106+177dup
XM_005255076.1:c.3103+176_3103+177dup	XP_005255133.1:n.3103+176_3103+177dup
XM_005255077.1:c.2981-28_2981-27dup	XP_005255134.1:n.2981-28_2981-27dup
XM_006721007.1:c.3089-28_3089-27dup	XP_006721070.1:n.3089-28_3089-27dup
XM_006721008.1:c.3071-28_3071-27dup	XP_006721071.1:n.3071-28_3071-27dup
XM_006721009.1:c.3160+122_3160+123dup	XP_006721072.1:n.3160+122_3160+123dup
XM_006721010.2:c.3160+122_3160+123dup	XP_006721073.1:n.3160+122_3160+123dup
XM_006721011.1:c.3107-151_3107-150dup	XP_006721074.1:n.3107-151_3107-150dup
XM_006721012.2:c.3107-151_3107-150dup	XP_006721075.1:n.3107-151_3107-150dup
XM_006721013.2:c.3107-151_3107-150dup	XP_006721076.1:n.3107-151_3107-150dup
XM_011545719.1:c.3161-28_3161-27dup	XP_011544021.1:n.3161-28_3161-27dup
XM_011545720.1:c.3160+122_3160+123dup	XP_011544022.1:n.3160+122_3160+123dup
XM_011545721.1:c.3107-151_3107-150dup	XP_011544023.1:n.3107-151_3107-150dup
XM_011545722.1:c.2795-28_2795-27dup	XP_011544024.1:n.2795-28_2795-27dup
XR_243256.1:n.3491_3492dup
XM_005255063.4:c.3161-28_3161-27dup	XP_005255120.1:n.3161-28_3161-27dup
XM_006721012.4:c.3107-151_3107-150dup	XP_006721075.1:n.3107-151_3107-150dup
XM_011545719.2:c.3161-28_3161-27dup	XP_011544021.1:n.3161-28_3161-27dup
XM_017022891.1:c.2963-28_2963-27dup	XP_016878380.1:n.2963-28_2963-27dup
XM_017022892.1:c.2777-28_2777-27dup	XP_016878381.1:n.2777-28_2777-27dup
XR_001751820.1:n.3494_3495dup
NM_001308230.2:c.3157+122_3157+123dup	NP_001295159.1:n.3157+122_3157+123dup
NM_001387166.1:c.3158-28_3158-27dup	NP_001374095.1:n.3158-28_3158-27dup
NM_001387167.1:c.3140-28_3140-27dup	NP_001374096.1:n.3140-28_3140-27dup
NM_001387168.1:c.3140-28_3140-27dup	NP_001374097.1:n.3140-28_3140-27dup
NM_001387169.1:c.3104-28_3104-27dup	NP_001374098.1:n.3104-28_3104-27dup
NM_001387170.1:c.3104-28_3104-27dup	NP_001374099.1:n.3104-28_3104-27dup
NM_001387171.1:c.*33_*34dup	NP_001374100.1:n.*33_*34dup
NM_001387172.1:c.*33_*34dup	NP_001374101.1:n.*33_*34dup
NM_001387173.1:c.3089-28_3089-27dup	NP_001374102.1:n.3089-28_3089-27dup
NM_001387174.1:c.3086-28_3086-27dup	NP_001374103.1:n.3086-28_3086-27dup
NM_001387175.1:c.3086-28_3086-27dup	NP_001374104.1:n.3086-28_3086-27dup
NM_001387176.1:c.3086-28_3086-27dup	NP_001374105.1:n.3086-28_3086-27dup
NM_001387177.1:c.3086-28_3086-27dup	NP_001374106.1:n.3086-28_3086-27dup
NM_001387178.1:c.*33_*34dup	NP_001374107.1:n.*33_*34dup
NM_001387179.1:c.3068-28_3068-27dup	NP_001374108.1:n.3068-28_3068-27dup
NM_001387180.1:c.*33_*34dup	NP_001374109.1:n.*33_*34dup
NM_001387181.1:c.3160+122_3160+123dup	NP_001374110.1:n.3160+122_3160+123dup
NM_001387182.1:c.3157+122_3157+123dup	NP_001374111.1:n.3157+122_3157+123dup
NM_001387183.1:c.3142+122_3142+123dup	NP_001374112.1:n.3142+122_3142+123dup
NM_001387184.1:c.3142+122_3142+123dup	NP_001374113.1:n.3142+122_3142+123dup
NM_001387185.1:c.3014-28_3014-27dup	NP_001374114.1:n.3014-28_3014-27dup
NM_001387186.1:c.*33_*34dup	NP_001374115.1:n.*33_*34dup
NM_001387187.1:c.*33_*34dup	NP_001374116.1:n.*33_*34dup
NM_001387188.1:c.*33_*34dup	NP_001374117.1:n.*33_*34dup
NM_001387189.1:c.3103+176_3103+177dup	NP_001374118.1:n.3103+176_3103+177dup
NM_001387190.1:c.3103+176_3103+177dup	NP_001374119.1:n.3103+176_3103+177dup
NM_001387191.1:c.3088+176_3088+177dup	NP_001374120.1:n.3088+176_3088+177dup
NM_001387192.1:c.3088+176_3088+177dup	NP_001374121.1:n.3088+176_3088+177dup
NM_001387193.1:c.3104-151_3104-150dup	NP_001374122.1:n.3104-151_3104-150dup
NM_001387194.1:c.3089-151_3089-150dup	NP_001374123.1:n.3089-151_3089-150dup
NM_001387195.1:c.3086-151_3086-150dup	NP_001374124.1:n.3086-151_3086-150dup
NM_001387196.1:c.3086-151_3086-150dup	NP_001374125.1:n.3086-151_3086-150dup
NM_001387197.1:c.3085+122_3085+123dup	NP_001374126.1:n.3085+122_3085+123dup
NM_001387198.1:c.3086-151_3086-150dup	NP_001374127.1:n.3086-151_3086-150dup
NM_001387199.1:c.3016+176_3016+177dup	NP_001374128.1:n.3016+176_3016+177dup
NM_001387200.1:c.3032-151_3032-150dup	NP_001374129.1:n.3032-151_3032-150dup
NM_001387202.1:c.3013+176_3013+177dup	NP_001374131.1:n.3013+176_3013+177dup
NM_001387203.1:c.*33_*34dup	NP_001374132.1:n.*33_*34dup
NM_001387204.1:c.2949+122_2949+123dup	NP_001374133.1:n.2949+122_2949+123dup
NM_007245.4:c.*33_*34dup MANE Select	NP_009176.2:n.*33_*34dup
NM_017492.4:c.3139+122_3139+123dup	NP_059867.3:n.3139+122_3139+123dup
NM_145714.3:c.3139+122_3139+123dup	NP_663760.1:n.3139+122_3139+123dup
NM_148414.3:c.3140-28_3140-27dup	NP_680780.1:n.3140-28_3140-27dup
NM_148415.3:c.3085+176_3085+177dup	NP_680781.1:n.3085+176_3085+177dup
NM_148416.3:c.3085+176_3085+177dup	NP_680782.1:n.3085+176_3085+177dup