Canonical Allele Identifier: CA1304273741

Gene: COBLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.164720484_164720486delinsAAG , CM000664.2:g.164720484_164720486delinsAAG	GRCh38
NC_000002.11:g.165576994_165576996delinsAAG , CM000664.1:g.165576994_165576996delinsAAG	GRCh37
NC_000002.10:g.165285240_165285242delinsAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409184.8:c.1134+1589_1134+1591delinsCTT	ENSP00000387326.5:n.1134+1589_1134+1591delinsCTT
ENST00000652658.2:c.996+1589_996+1591delinsCTT MANE Select	ENSP00000498242.1:n.996+1589_996+1591delinsCTT
ENST00000342193.8:c.996+1589_996+1591delinsCTT	ENSP00000341360.4:n.996+1589_996+1591delinsCTT
ENST00000375458.6:c.996+1589_996+1591delinsCTT	ENSP00000364607.2:n.996+1589_996+1591delinsCTT
ENST00000392717.6:c.1110+1589_1110+1591delinsCTT	ENSP00000376478.2:n.1110+1589_1110+1591delinsCTT
ENST00000409184.7:c.1115+1589_1115+1591delinsCTT
ENST00000434366.5:n.366-15381_366-15379delinsCTT
ENST00000456171.5:c.1035+1589_1035+1591delinsCTT	ENSP00000416311.1:n.1035+1589_1035+1591delinsCTT
ENST00000491126.6:n.226-15381_226-15379delinsCTT
ENST00000493868.5:n.2820+1589_2820+1591delinsCTT
ENST00000629362.2:c.1194+1589_1194+1591delinsCTT	ENSP00000487041.2:n.1194+1589_1194+1591delinsCTT
NM_001278458.1:c.1194+1589_1194+1591delinsCTT	NP_001265387.1:n.1194+1589_1194+1591delinsCTT
NM_001278460.1:c.1134+1589_1134+1591delinsCTT	NP_001265389.1:n.1134+1589_1134+1591delinsCTT
NM_001278461.1:c.996+1589_996+1591delinsCTT	NP_001265390.1:n.996+1589_996+1591delinsCTT
NM_014900.4:c.996+1589_996+1591delinsCTT	NP_055715.3:n.996+1589_996+1591delinsCTT
NM_001365670.1:c.1134+1589_1134+1591delinsCTT	NP_001352599.1:n.1134+1589_1134+1591delinsCTT
NM_001365671.1:c.1173+1589_1173+1591delinsCTT	NP_001352600.1:n.1173+1589_1173+1591delinsCTT
NM_001365672.1:c.996+1589_996+1591delinsCTT	NP_001352601.1:n.996+1589_996+1591delinsCTT
NM_001365673.1:c.996+1589_996+1591delinsCTT	NP_001352602.1:n.996+1589_996+1591delinsCTT
NM_001365674.1:c.1035+1589_1035+1591delinsCTT	NP_001352603.1:n.1035+1589_1035+1591delinsCTT
NM_001365675.1:c.1035+1589_1035+1591delinsCTT	NP_001352604.1:n.1035+1589_1035+1591delinsCTT
NM_001278458.2:c.1194+1589_1194+1591delinsCTT	NP_001265387.1:n.1194+1589_1194+1591delinsCTT
NM_001278460.2:c.1134+1589_1134+1591delinsCTT	NP_001265389.1:n.1134+1589_1134+1591delinsCTT
NM_001278461.2:c.996+1589_996+1591delinsCTT	NP_001265390.1:n.996+1589_996+1591delinsCTT
NM_001365670.2:c.1134+1589_1134+1591delinsCTT	NP_001352599.1:n.1134+1589_1134+1591delinsCTT
NM_001365672.2:c.996+1589_996+1591delinsCTT MANE Select	NP_001352601.1:n.996+1589_996+1591delinsCTT
NM_001365673.2:c.996+1589_996+1591delinsCTT	NP_001352602.1:n.996+1589_996+1591delinsCTT
NM_001365674.2:c.1035+1589_1035+1591delinsCTT	NP_001352603.1:n.1035+1589_1035+1591delinsCTT
NM_001365675.2:c.1035+1589_1035+1591delinsCTT	NP_001352604.1:n.1035+1589_1035+1591delinsCTT
NM_014900.5:c.996+1589_996+1591delinsCTT	NP_055715.3:n.996+1589_996+1591delinsCTT