Canonical Allele Identifier: CA731621992

Gene: HSPG2

Linked Data

• dbSNP Id: rs1324154221
• gnomAD v3: 1-21899191-AAT-A
• gnomAD v4: 1-21899191-AAT-A
• MyVariant Identifiers: chr1:g.22225685_22225686del (hg19) ; chr1:g.21899192_21899193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21899193_21899194del , CM000663.2:g.21899193_21899194del	GRCh38
NC_000001.10:g.22225686_22225687del , CM000663.1:g.22225686_22225687del	GRCh37
NC_000001.9:g.22098273_22098274del	NCBI36
NG_016740.1:g.43065_43066del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.64-2883_64-2882del MANE Select	ENSP00000363827.3:n.64-2883_64-2882del
ENST00000374695.7:c.64-2883_64-2882del	ENSP00000363827.3:n.64-2883_64-2882del
NM_001291860.1:c.64-2883_64-2882del	NP_001278789.1:n.64-2883_64-2882del
NM_005529.6:c.64-2883_64-2882del	NP_005520.4:n.64-2883_64-2882del
XM_006710594.2:c.64-2883_64-2882del	XP_006710657.1:n.64-2883_64-2882del
XM_006710595.2:c.64-2883_64-2882del	XP_006710658.1:n.64-2883_64-2882del
XM_006710596.2:c.64-2883_64-2882del	XP_006710659.1:n.64-2883_64-2882del
XM_006710597.2:c.64-2883_64-2882del	XP_006710660.1:n.64-2883_64-2882del
XM_011541317.1:c.64-2883_64-2882del	XP_011539619.1:n.64-2883_64-2882del
XM_011541318.1:c.64-2883_64-2882del	XP_011539620.1:n.64-2883_64-2882del
XM_011541319.1:c.64-2883_64-2882del	XP_011539621.1:n.64-2883_64-2882del
XM_011541320.1:c.64-2883_64-2882del	XP_011539622.1:n.64-2883_64-2882del
XM_011541321.1:c.64-2883_64-2882del	XP_011539623.1:n.64-2883_64-2882del
XM_011541322.1:c.64-2883_64-2882del	XP_011539624.1:n.64-2883_64-2882del
XM_011541318.2:c.64-2883_64-2882del	XP_011539620.1:n.64-2883_64-2882del
NM_005529.7:c.64-2883_64-2882del MANE Select	NP_005520.4:n.64-2883_64-2882del
NM_001291860.2:c.64-2883_64-2882del	NP_001278789.1:n.64-2883_64-2882del