Canonical Allele Identifier: CA2580070980

Gene: LIAS

Linked Data

• ClinVar Variation Id: 2005335
• ClinVar RCV Id: RCV002820952
• gnomAD v4: 4-39460873-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39460874del , CM000666.2:g.39460874del	GRCh38
NC_000004.11:g.39462494del , CM000666.1:g.39462494del	GRCh37
NC_000004.10:g.39138889del	NCBI36
NG_032111.1:g.6830del
NG_052985.1:g.3075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.130del	ENSP00000261434.4:p.Asp44ThrfsTer23
ENST00000340169.7:c.130del	ENSP00000340676.2:p.Asp44ThrfsTer23
ENST00000381846.2:c.130del	ENSP00000371270.1:p.Asp44ThrfsTer23
ENST00000513731.6:c.130del	ENSP00000425580.1:p.Asp44ThrfsTer23
ENST00000638422.1:c.130del	ENSP00000491001.1:p.Asp44ThrfsTer23
ENST00000638430.1:c.2del
ENST00000638451.1:c.130del	ENSP00000491681.1:p.Asp44ThrfsTer23
ENST00000638816.1:c.1del	ENSP00000492482.1:p.Asp1ThrfsTer23
ENST00000638837.1:c.130del	ENSP00000492038.1:p.Asp44ThrfsTer23
ENST00000639422.1:c.130del	ENSP00000491899.1:p.Asp44ThrfsTer23
ENST00000640349.1:c.130del	ENSP00000491477.1:p.Asp44ThrfsTer23
ENST00000640381.1:n.190del
ENST00000640489.1:c.*29del	ENSP00000492540.1:n.*29del
ENST00000640689.1:c.130del	ENSP00000491591.1:p.Asp44ThrfsTer23
ENST00000640888.2:c.130del MANE Select	ENSP00000492260.1:p.Asp44ThrfsTer23
ENST00000261434.7:c.130del	ENSP00000261434.3:p.Asp44ThrfsTer23
ENST00000340169.6:c.130del	ENSP00000340676.2:p.Asp44ThrfsTer23
ENST00000381846.1:c.130del	ENSP00000371270.1:p.Asp44ThrfsTer23
ENST00000424936.6:n.190del
ENST00000509519.5:n.203del
ENST00000513731.5:c.130del	ENSP00000425580.1:p.Asp44ThrfsTer23
ENST00000515061.1:n.128del
NM_001278590.1:c.130del	NP_001265519.1:p.Asp44ThrfsTer23
NM_001278591.1:c.130del	NP_001265520.1:p.Asp44ThrfsTer23
NM_001278592.1:c.130del	NP_001265521.1:p.Asp44ThrfsTer23
NM_006859.3:c.130del	NP_006850.2:p.Asp44ThrfsTer23
NM_194451.2:c.130del	NP_919433.1:p.Asp44ThrfsTer23
XM_006713990.2:c.130del	XP_006714053.1:p.Asp44ThrfsTer23
NM_001363700.1:c.130del	NP_001350629.1:p.Asp44ThrfsTer23
XM_006713990.3:c.130del	XP_006714053.1:p.Asp44ThrfsTer23
XM_017007665.2:c.130del	XP_016863154.1:p.Asp44ThrfsTer23
XR_001741096.2:n.218del
NM_001278590.2:c.130del	NP_001265519.1:p.Asp44ThrfsTer23
NM_001363700.2:c.130del	NP_001350629.1:p.Asp44ThrfsTer23
NM_006859.4:c.130del MANE Select	NP_006850.2:p.Asp44ThrfsTer23
NM_194451.3:c.130del	NP_919433.1:p.Asp44ThrfsTer23
NM_001278591.2:c.130del	NP_001265520.1:p.Asp44ThrfsTer23
NM_001278592.2:c.130del	NP_001265521.1:p.Asp44ThrfsTer23