Canonical Allele Identifier: CA1139658476

Gene: LIAS

Linked Data

• ClinVar Variation Id: 930324
• ClinVar RCV Id: RCV001195900
• dbSNP Id: rs1744806313

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467552del , CM000666.2:g.39467552del	GRCh38
NC_000004.11:g.39469172del , CM000666.1:g.39469172del	GRCh37
NC_000004.10:g.39145567del	NCBI36
NG_032111.1:g.13508del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.334del	ENSP00000261434.4:p.Asp112IlefsTer9
ENST00000340169.7:c.643del	ENSP00000340676.2:p.Asp215IlefsTer9
ENST00000381846.2:c.608+2210del	ENSP00000371270.1:n.608+2210del
ENST00000513731.6:c.253del	ENSP00000425580.1:p.Asp85IlefsTer9
ENST00000638422.1:c.643del	ENSP00000491001.1:p.Asp215IlefsTer9
ENST00000638430.1:c.340del
ENST00000638451.1:c.300-2467del	ENSP00000491681.1:n.300-2467del
ENST00000638816.1:c.357del	ENSP00000492482.1:n.357del
ENST00000639422.1:c.428del	ENSP00000491899.1:p.Ter143TyrextTer?
ENST00000640349.1:c.529del	ENSP00000491477.1:p.Asp177IlefsTer9
ENST00000640381.1:n.703del
ENST00000640672.1:c.368+2210del	ENSP00000492203.1:n.368+2210del
ENST00000640689.1:c.*246del	ENSP00000491591.1:n.*246del
ENST00000640888.2:c.643del MANE Select	ENSP00000492260.1:p.Asp215IlefsTer9
ENST00000261434.7:c.643del	ENSP00000261434.3:p.Asp215IlefsTer9
ENST00000340169.6:c.643del	ENSP00000340676.2:p.Asp215IlefsTer9
ENST00000381846.1:c.608+2210del	ENSP00000371270.1:n.608+2210del
ENST00000513731.5:c.253del	ENSP00000425580.1:p.Asp85IlefsTer9
NM_001278590.1:c.608+2210del	NP_001265519.1:n.608+2210del
NM_006859.3:c.643del	NP_006850.2:p.Asp215IlefsTer9
NM_194451.2:c.643del	NP_919433.1:p.Asp215IlefsTer9
XM_006713990.2:c.300-2467del	XP_006714053.1:n.300-2467del
NM_001363700.1:c.334del	NP_001350629.1:p.Asp112IlefsTer9
XM_006713990.3:c.300-2467del	XP_006714053.1:n.300-2467del
XM_017007665.2:c.608+2210del	XP_016863154.1:n.608+2210del
XR_001741096.2:n.731del
NM_001278590.2:c.608+2210del	NP_001265519.1:n.608+2210del
NM_001363700.2:c.334del	NP_001350629.1:p.Asp112IlefsTer9
NM_006859.4:c.643del MANE Select	NP_006850.2:p.Asp215IlefsTer9
NM_194451.3:c.643del	NP_919433.1:p.Asp215IlefsTer9