Canonical Allele Identifier: CA2580613347

Gene: LINS1

Linked Data

• ClinVar Variation Id: 2572261
• ClinVar RCV Id: RCV003314146

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573686_100573687delinsGG , CM000677.2:g.100573686_100573687delinsGG	GRCh38
NC_000015.9:g.101113891_101113892delinsGG , CM000677.1:g.101113891_101113892delinsGG	GRCh37
NC_000015.8:g.98931414_98931415delinsGG	NCBI36
NG_034076.1:g.33554_33555delinsCC
NG_034076.2:g.34346_34347delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1186_1187delinsCC MANE Select	ENSP00000318423.8:p.Lys396Pro
ENST00000314742.12:c.1186_1187delinsCC	ENSP00000318423.8:p.Lys396Pro
ENST00000559149.5:n.1343_1344delinsCC
ENST00000560133.5:c.829_830delinsCC	ENSP00000454929.1:p.Lys277Pro
ENST00000560783.1:c.155_156delinsCC
ENST00000561308.5:c.1186_1187delinsCC	ENSP00000454200.1:p.Lys396Pro
NM_001040616.2:c.1186_1187delinsCC	NP_001035706.1:p.Lys396Pro
XM_005254941.1:c.1186_1187delinsCC	XP_005254998.1:p.Lys396Pro
XM_005254943.1:c.1186_1187delinsCC	XP_005255000.1:p.Lys396Pro
XR_243210.2:n.1289_1290delinsCC
XR_429464.2:n.1289_1290delinsCC
XR_931862.1:n.1289_1290delinsCC
XR_931863.1:n.1289_1290delinsCC
XR_931864.1:n.1289_1290delinsCC
NM_001352507.1:c.439_440delinsCC	NP_001339436.1:p.Lys147Pro
NM_001352508.1:c.1141_1142delinsCC	NP_001339437.1:p.Lys381Pro
NR_148017.1:n.1409_1410delinsCC
NR_148018.1:n.1409_1410delinsCC
NR_148019.1:n.1413_1414delinsCC
XM_005254941.2:c.1186_1187delinsCC	XP_005254998.1:p.Lys396Pro
XM_005254943.2:c.1186_1187delinsCC	XP_005255000.1:p.Lys396Pro
XM_017022399.2:c.439_440delinsCC	XP_016877888.1:p.Lys147Pro
XM_017022400.2:c.439_440delinsCC	XP_016877889.1:p.Lys147Pro
XM_024449979.1:c.1186_1187delinsCC	XP_024305747.1:p.Lys396Pro
XM_024449980.1:c.1186_1187delinsCC	XP_024305748.1:p.Lys396Pro
XR_001751346.2:n.2201_2202delinsCC
XR_001751347.2:n.2201_2202delinsCC
XR_001751348.2:n.2201_2202delinsCC
XR_002957655.1:n.2201_2202delinsCC
XR_931862.3:n.2201_2202delinsCC
NM_001040616.3:c.1186_1187delinsCC MANE Select	NP_001035706.2:p.Lys396Pro
NM_001352507.2:c.439_440delinsCC	NP_001339436.1:p.Lys147Pro
NM_001352508.2:c.1141_1142delinsCC	NP_001339437.1:p.Lys381Pro
NR_148017.2:n.1353_1354delinsCC
NR_148018.2:n.1353_1354delinsCC
NR_148019.2:n.1357_1358delinsCC