Canonical Allele Identifier: CA914936532

Gene: LIAS

Linked Data

• dbSNP Id: rs1560669378
• gnomAD v2: 4-39469100-CTT-C
• gnomAD v3: 4-39467480-CTT-C
• gnomAD v4: 4-39467480-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467482_39467483del , CM000666.2:g.39467482_39467483del	GRCh38
NC_000004.11:g.39469102_39469103del , CM000666.1:g.39469102_39469103del	GRCh37
NC_000004.10:g.39145497_39145498del	NCBI36
NG_032111.1:g.13438_13439del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.300-36_300-35del	ENSP00000261434.4:n.300-36_300-35del
ENST00000340169.7:c.609-36_609-35del	ENSP00000340676.2:n.609-36_609-35del
ENST00000381846.2:c.608+2140_608+2141del	ENSP00000371270.1:n.608+2140_608+2141del
ENST00000513731.6:c.219-36_219-35del	ENSP00000425580.1:n.219-36_219-35del
ENST00000638422.1:c.609-36_609-35del	ENSP00000491001.1:n.609-36_609-35del
ENST00000638430.1:c.306-36_306-35del
ENST00000638451.1:c.300-2537_300-2536del	ENSP00000491681.1:n.300-2537_300-2536del
ENST00000638816.1:c.323-36_323-35del	ENSP00000492482.1:n.323-36_323-35del
ENST00000639422.1:c.394-36_394-35del	ENSP00000491899.1:n.394-36_394-35del
ENST00000640349.1:c.495-36_495-35del	ENSP00000491477.1:n.495-36_495-35del
ENST00000640381.1:n.669-36_669-35del
ENST00000640672.1:c.368+2140_368+2141del	ENSP00000492203.1:n.368+2140_368+2141del
ENST00000640689.1:c.*212-36_*212-35del	ENSP00000491591.1:n.*212-36_*212-35del
ENST00000640888.2:c.609-36_609-35del MANE Select	ENSP00000492260.1:n.609-36_609-35del
ENST00000261434.7:c.609-36_609-35del	ENSP00000261434.3:n.609-36_609-35del
ENST00000340169.6:c.609-36_609-35del	ENSP00000340676.2:n.609-36_609-35del
ENST00000381846.1:c.608+2140_608+2141del	ENSP00000371270.1:n.608+2140_608+2141del
ENST00000513731.5:c.219-36_219-35del	ENSP00000425580.1:n.219-36_219-35del
NM_001278590.1:c.608+2140_608+2141del	NP_001265519.1:n.608+2140_608+2141del
NM_006859.3:c.609-36_609-35del	NP_006850.2:n.609-36_609-35del
NM_194451.2:c.609-36_609-35del	NP_919433.1:n.609-36_609-35del
XM_006713990.2:c.300-2537_300-2536del	XP_006714053.1:n.300-2537_300-2536del
NM_001363700.1:c.300-36_300-35del	NP_001350629.1:n.300-36_300-35del
XM_006713990.3:c.300-2537_300-2536del	XP_006714053.1:n.300-2537_300-2536del
XM_017007665.2:c.608+2140_608+2141del	XP_016863154.1:n.608+2140_608+2141del
XR_001741096.2:n.697-36_697-35del
NM_001278590.2:c.608+2140_608+2141del	NP_001265519.1:n.608+2140_608+2141del
NM_001363700.2:c.300-36_300-35del	NP_001350629.1:n.300-36_300-35del
NM_006859.4:c.609-36_609-35del MANE Select	NP_006850.2:n.609-36_609-35del
NM_194451.3:c.609-36_609-35del	NP_919433.1:n.609-36_609-35del