Canonical Allele Identifier: CA2630621405

Gene: LINS1

Linked Data

• gnomAD v4: 15-100573759-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573760dup , CM000677.2:g.100573760dup	GRCh38
NC_000015.9:g.101113965dup , CM000677.1:g.101113965dup	GRCh37
NC_000015.8:g.98931488dup	NCBI36
NG_034076.1:g.33481dup
NG_034076.2:g.34273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1113dup MANE Select	ENSP00000318423.8:p.Glu372Ter
ENST00000314742.12:c.1113dup	ENSP00000318423.8:p.Glu372Ter
ENST00000559149.5:n.1270dup
ENST00000560133.5:c.756dup	ENSP00000454929.1:p.Glu253Ter
ENST00000560783.1:c.82dup
ENST00000561308.5:c.1113dup	ENSP00000454200.1:p.Glu372Ter
NM_001040616.2:c.1113dup	NP_001035706.1:p.Glu372Ter
XM_005254941.1:c.1113dup	XP_005254998.1:p.Glu372Ter
XM_005254943.1:c.1113dup	XP_005255000.1:p.Glu372Ter
XR_243210.2:n.1216dup
XR_429464.2:n.1216dup
XR_931862.1:n.1216dup
XR_931863.1:n.1216dup
XR_931864.1:n.1216dup
NM_001352507.1:c.366dup	NP_001339436.1:p.Glu123Ter
NM_001352508.1:c.1068dup	NP_001339437.1:p.Glu357Ter
NR_148017.1:n.1336dup
NR_148018.1:n.1336dup
NR_148019.1:n.1340dup
XM_005254941.2:c.1113dup	XP_005254998.1:p.Glu372Ter
XM_005254943.2:c.1113dup	XP_005255000.1:p.Glu372Ter
XM_017022399.2:c.366dup	XP_016877888.1:p.Glu123Ter
XM_017022400.2:c.366dup	XP_016877889.1:p.Glu123Ter
XM_024449979.1:c.1113dup	XP_024305747.1:p.Glu372Ter
XM_024449980.1:c.1113dup	XP_024305748.1:p.Glu372Ter
XR_001751346.2:n.2128dup
XR_001751347.2:n.2128dup
XR_001751348.2:n.2128dup
XR_002957655.1:n.2128dup
XR_931862.3:n.2128dup
NM_001040616.3:c.1113dup MANE Select	NP_001035706.2:p.Glu372Ter
NM_001352507.2:c.366dup	NP_001339436.1:p.Glu123Ter
NM_001352508.2:c.1068dup	NP_001339437.1:p.Glu357Ter
NR_148017.2:n.1280dup
NR_148018.2:n.1280dup
NR_148019.2:n.1284dup