Canonical Allele Identifier: CA2670378751

Gene: LIAS

Linked Data

• gnomAD v4: 4-39460921-G-GAATTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39460921_39460922insAATTAC , CM000666.2:g.39460921_39460922insAATTAC	GRCh38
NC_000004.11:g.39462541_39462542insAATTAC , CM000666.1:g.39462541_39462542insAATTAC	GRCh37
NC_000004.10:g.39138936_39138937insAATTAC	NCBI36
NG_032111.1:g.6877_6878insAATTAC
NG_052985.1:g.3027_3028insGTAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261434.8:c.177_178insAATTAC	ENSP00000261434.4:p.Trp59_Asp60insAsnTyr
ENST00000340169.7:c.177_178insAATTAC	ENSP00000340676.2:p.Trp59_Asp60insAsnTyr
ENST00000381846.2:c.177_178insAATTAC	ENSP00000371270.1:p.Trp59_Asp60insAsnTyr
ENST00000513731.6:c.177_178insAATTAC	ENSP00000425580.1:p.Trp59_Asp60insAsnTyr
ENST00000638422.1:c.177_178insAATTAC	ENSP00000491001.1:p.Trp59_Asp60insAsnTyr
ENST00000638430.1:c.49_50insAATTAC
ENST00000638451.1:c.177_178insAATTAC	ENSP00000491681.1:p.Trp59_Asp60insAsnTyr
ENST00000638816.1:c.48_49insAATTAC	ENSP00000492482.1:p.Trp16_Asp17insAsnTyr
ENST00000638837.1:c.177_178insAATTAC	ENSP00000492038.1:p.Trp59_Asp60insAsnTyr
ENST00000639422.1:c.177_178insAATTAC	ENSP00000491899.1:p.Trp59_Asp60insAsnTyr
ENST00000640349.1:c.177_178insAATTAC	ENSP00000491477.1:p.Trp59_Asp60insAsnTyr
ENST00000640381.1:n.237_238insAATTAC
ENST00000640489.1:c.*76_*77insAATTAC	ENSP00000492540.1:n.*76_*77insAATTAC
ENST00000640689.1:c.177_178insAATTAC	ENSP00000491591.1:p.Trp59_Asp60insAsnTyr
ENST00000640888.2:c.177_178insAATTAC MANE Select	ENSP00000492260.1:p.Trp59_Asp60insAsnTyr
ENST00000261434.7:c.177_178insAATTAC	ENSP00000261434.3:p.Trp59_Asp60insAsnTyr
ENST00000340169.6:c.177_178insAATTAC	ENSP00000340676.2:p.Trp59_Asp60insAsnTyr
ENST00000381846.1:c.177_178insAATTAC	ENSP00000371270.1:p.Trp59_Asp60insAsnTyr
ENST00000424936.6:n.237_238insAATTAC
ENST00000509519.5:n.250_251insAATTAC
ENST00000513731.5:c.177_178insAATTAC	ENSP00000425580.1:p.Trp59_Asp60insAsnTyr
ENST00000515061.1:n.175_176insAATTAC
NM_001278590.1:c.177_178insAATTAC	NP_001265519.1:p.Trp59_Asp60insAsnTyr
NM_001278591.1:c.177_178insAATTAC	NP_001265520.1:p.Trp59_Asp60insAsnTyr
NM_001278592.1:c.177_178insAATTAC	NP_001265521.1:p.Trp59_Asp60insAsnTyr
NM_006859.3:c.177_178insAATTAC	NP_006850.2:p.Trp59_Asp60insAsnTyr
NM_194451.2:c.177_178insAATTAC	NP_919433.1:p.Trp59_Asp60insAsnTyr
XM_006713990.2:c.177_178insAATTAC	XP_006714053.1:p.Trp59_Asp60insAsnTyr
NM_001363700.1:c.177_178insAATTAC	NP_001350629.1:p.Trp59_Asp60insAsnTyr
XM_006713990.3:c.177_178insAATTAC	XP_006714053.1:p.Trp59_Asp60insAsnTyr
XM_017007665.2:c.177_178insAATTAC	XP_016863154.1:p.Trp59_Asp60insAsnTyr
XR_001741096.2:n.265_266insAATTAC
NM_001278590.2:c.177_178insAATTAC	NP_001265519.1:p.Trp59_Asp60insAsnTyr
NM_001363700.2:c.177_178insAATTAC	NP_001350629.1:p.Trp59_Asp60insAsnTyr
NM_006859.4:c.177_178insAATTAC MANE Select	NP_006850.2:p.Trp59_Asp60insAsnTyr
NM_194451.3:c.177_178insAATTAC	NP_919433.1:p.Trp59_Asp60insAsnTyr
NM_001278591.2:c.177_178insAATTAC	NP_001265520.1:p.Trp59_Asp60insAsnTyr
NM_001278592.2:c.177_178insAATTAC	NP_001265521.1:p.Trp59_Asp60insAsnTyr