Allele Registry

Canonical Allele Identifier: CA10602759

Gene: HSPG2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.21880518_21880519del

GRCh37 chr1:g.22207011_22207012del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000286863

ClinVar Variation:

280466

dbSNP:

886041667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21880523_21880524del , CM000663.2:g.21880523_21880524del	GRCh38
NC_000001.10:g.22207016_22207017del , CM000663.1:g.22207016_22207017del	GRCh37
NC_000001.9:g.22079603_22079604del	NCBI36
NG_016740.1:g.61739_61740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.2039_2040del MANE Select	ENSP00000363827.3:p.Ala680GlyfsTer28
ENST00000374695.7:c.2039_2040del	ENSP00000363827.3:p.Ala680GlyfsTer28
NM_001291860.1:c.2042_2043del	NP_001278789.1:p.Ala681GlyfsTer28
NM_005529.6:c.2039_2040del	NP_005520.4:p.Ala680GlyfsTer28
XM_006710594.2:c.2090_2091del	XP_006710657.1:p.Ala697GlyfsTer28
XM_006710595.2:c.2042_2043del	XP_006710658.1:p.Ala681GlyfsTer28
XM_006710596.2:c.2093_2094del	XP_006710659.1:p.Ala698GlyfsTer28
XM_006710597.2:c.2039_2040del	XP_006710660.1:p.Ala680GlyfsTer28
XM_011541317.1:c.2093_2094del	XP_011539619.1:p.Ala698GlyfsTer28
XM_011541318.1:c.2093_2094del	XP_011539620.1:p.Ala698GlyfsTer28
XM_011541319.1:c.2093_2094del	XP_011539621.1:p.Ala698GlyfsTer28
XM_011541320.1:c.2093_2094del	XP_011539622.1:p.Ala698GlyfsTer28
XM_011541321.1:c.2093_2094del	XP_011539623.1:p.Ala698GlyfsTer28
XM_011541322.1:c.2093_2094del	XP_011539624.1:p.Ala698GlyfsTer28
XM_011541318.2:c.2093_2094del	XP_011539620.1:p.Ala698GlyfsTer28
XM_017001120.1:c.2234_2235del	XP_016856609.1:p.Ala745GlyfsTer28
XM_017001121.1:c.2183_2184del	XP_016856610.1:p.Ala728GlyfsTer28
XM_017001122.1:c.2180_2181del	XP_016856611.1:p.Ala727GlyfsTer28
NM_005529.7:c.2039_2040del MANE Select	NP_005520.4:p.Ala680GlyfsTer28
NM_001291860.2:c.2042_2043del	NP_001278789.1:p.Ala681GlyfsTer28

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