Canonical Allele Identifier: CA2763129

Gene: LSG1

Linked Data

• ClinVar Variation Id: 786029
• ClinVar RCV Id: RCV000968024
• dbSNP Id: rs200676501
• ExAC: 3:194366977 GGA / G
• gnomAD v2: 3-194366977-GGA-G
• gnomAD v3: 3-194646248-GGA-G
• gnomAD v4: 3-194646248-GGA-G
• MyVariant Identifiers: chr3:g.194366978_194366979del (hg19) ; chr3:g.194646250_194646251del (hg38) ; chr3:g.194646249_194646250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194646253_194646254del , CM000665.2:g.194646253_194646254del	GRCh38
NC_000003.11:g.194366982_194366983del , CM000665.1:g.194366982_194366983del	GRCh37
NC_000003.10:g.195848271_195848272del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265245.10:c.1544-7_1544-6del MANE Select	ENSP00000265245.5:n.1544-7_1544-6del
ENST00000265245.9:c.1544-7_1544-6del	ENSP00000265245.5:n.1544-7_1544-6del
ENST00000437613.1:c.694-7_694-6del
ENST00000460584.1:n.340-7_340-6del
ENST00000475763.5:n.195_196del
NM_018385.2:c.1544-7_1544-6del	NP_060855.2:n.1544-7_1544-6del
XM_017006796.1:c.1070-7_1070-6del	XP_016862285.1:n.1070-7_1070-6del
NM_018385.3:c.1544-7_1544-6del MANE Select	NP_060855.2:n.1544-7_1544-6del