Canonical Allele Identifier: CA16609656

Gene: LRSAM1

Linked Data

• ClinVar Variation Id: 651567
• ClinVar RCV Id: RCV000806958 ; RCV001173629 ; RCV003480847 ; RCV002422769
• dbSNP Id: rs1315010600
• gnomAD v2: 9-130263394-C-CA
• gnomAD v3: 9-127501115-C-CA
• gnomAD v4: 9-127501115-C-CA
• MyVariant Identifiers: chr9:g.130263394_130263395insA (hg19) ; chr9:g.127501115_127501116insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127501116dup , CM000671.2:g.127501116dup	GRCh38
NC_000009.11:g.130263395dup , CM000671.1:g.130263395dup	GRCh37
NC_000009.10:g.129303216dup	NCBI36
NG_032008.1:g.54631dup , LRG_373:g.54631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.2019dup MANE Select	ENSP00000300417.6:p.Glu674ArgfsTer?
ENST00000472068.2:c.*1743dup	ENSP00000501555.1:n.*1743dup
ENST00000483302.6:n.2684dup
ENST00000498513.6:c.*910dup	ENSP00000501637.1:n.*910dup
ENST00000674511.1:n.1618dup
ENST00000674516.1:c.*635dup	ENSP00000502441.1:n.*635dup
ENST00000674621.1:n.1861-2257dup
ENST00000674771.1:c.*662dup	ENSP00000502627.1:n.*662dup
ENST00000674784.1:c.*1079dup	ENSP00000501837.1:n.*1079dup
ENST00000674970.1:c.*1793dup	ENSP00000502493.1:n.*1793dup
ENST00000675012.1:n.1963dup
ENST00000675141.1:c.1920dup	ENSP00000502420.1:p.Glu641ArgfsTer?
ENST00000675198.1:n.1899dup
ENST00000675213.1:c.1974dup	ENSP00000502218.1:p.Glu659ArgfsTer?
ENST00000675224.1:c.*85dup	ENSP00000501869.1:n.*85dup
ENST00000675253.1:c.*691dup	ENSP00000502557.1:n.*691dup
ENST00000675445.1:c.*1691dup	ENSP00000502253.1:n.*1691dup
ENST00000675448.1:c.2019dup	ENSP00000502167.1:p.Glu674ArgfsTer?
ENST00000675521.1:n.1929dup
ENST00000675572.1:c.1920dup	ENSP00000501598.1:p.Glu641ArgfsTer?
ENST00000675641.1:c.*761dup	ENSP00000501845.1:n.*761dup
ENST00000675657.1:c.*632dup	ENSP00000502002.1:n.*632dup
ENST00000675662.1:n.1814dup
ENST00000675789.1:c.1839dup	ENSP00000501954.1:p.Glu614ArgfsTer?
ENST00000675883.1:c.1938dup	ENSP00000501592.1:p.Glu647ArgfsTer?
ENST00000675945.1:c.*660dup	ENSP00000501835.1:n.*660dup
ENST00000676014.1:c.1962dup	ENSP00000502058.1:p.Glu655ArgfsTer?
ENST00000676035.1:n.1681dup
ENST00000676106.1:n.2056dup
ENST00000676137.1:n.2049dup
ENST00000676170.1:c.2100dup	ENSP00000502177.1:p.Glu701ArgfsTer?
ENST00000676318.1:c.*2849dup	ENSP00000502300.1:n.*2849dup
ENST00000676336.1:c.*632dup	ENSP00000502686.1:n.*632dup
ENST00000676349.1:c.*1707dup	ENSP00000502155.1:n.*1707dup
ENST00000676399.1:n.1922dup
ENST00000676409.1:n.2079dup
ENST00000300417.10:c.2019dup	ENSP00000300417.6:p.Glu674ArgfsTer?
ENST00000323301.8:c.2019dup	ENSP00000322937.4:p.Glu674ArgfsTer?
ENST00000373322.1:c.2019dup	ENSP00000362419.1:p.Glu674ArgfsTer?
ENST00000373324.8:c.1938dup	ENSP00000362421.4:p.Glu647ArgfsTer?
ENST00000483302.5:n.1241dup
NM_001005373.3:c.2019dup	NP_001005373.1:p.Glu674ArgfsTer?
NM_001005374.3:c.2019dup	NP_001005374.1:p.Glu674ArgfsTer?
NM_001190723.2:c.1938dup	NP_001177652.1:p.Glu647ArgfsTer?
NM_138361.5:c.2019dup , LRG_373t1:c.2019dup	NP_612370.3:p.Glu674ArgfsTer?
XM_006717316.2:c.1920dup	XP_006717379.1:p.Glu641ArgfsTer?
XM_006717316.4:c.1920dup	XP_006717379.1:p.Glu641ArgfsTer?
XM_017015283.1:c.2019dup	XP_016870772.1:p.Glu674ArgfsTer?
XM_017015284.2:c.1230dup	XP_016870773.1:p.Glu411ArgfsTer?
XR_001746415.2:n.2554dup
XR_929874.3:n.2378dup
NM_001190723.3:c.1938dup	NP_001177652.1:p.Glu647ArgfsTer?
NM_001005373.4:c.2019dup MANE Select	NP_001005373.1:p.Glu674ArgfsTer?
NM_001005374.4:c.2019dup	NP_001005374.1:p.Glu674ArgfsTer?
NM_001384142.1:c.2019dup	NP_001371071.1:p.Glu674ArgfsTer?
NM_001384143.1:c.1920dup	NP_001371072.1:p.Glu641ArgfsTer?
NM_001384144.1:c.1230dup	NP_001371073.1:p.Glu411ArgfsTer?
NR_168891.1:n.2548dup
NR_168892.1:n.2372dup