Canonical Allele Identifier: CA731547771

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 1323078
• ClinVar RCV Id: RCV001783442
• dbSNP Id: rs1318029350
• gnomAD v3: 1-21842256-CTG-C
• gnomAD v4: 1-21842256-CTG-C
• MyVariant Identifiers: chr1:g.22168750_22168751del (hg19) ; chr1:g.21842257_21842258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842257_21842258del , CM000663.2:g.21842257_21842258del	GRCh38
NC_000001.10:g.22168750_22168751del , CM000663.1:g.22168750_22168751del	GRCh37
NC_000001.9:g.22041337_22041338del	NCBI36
NG_016740.1:g.100000_100001del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9033_9034del MANE Select	ENSP00000363827.3:p.Ser3012Ter
ENST00000374695.7:c.9033_9034del	ENSP00000363827.3:p.Ser3012Ter
NM_001291860.1:c.9036_9037del	NP_001278789.1:p.Ser3013Ter
NM_005529.6:c.9033_9034del	NP_005520.4:p.Ser3012Ter
XM_006710594.2:c.9579_9580del	XP_006710657.1:p.Ser3194Ter
XM_006710595.2:c.9531_9532del	XP_006710658.1:p.Ser3178Ter
XM_006710596.2:c.9510_9511del	XP_006710659.1:p.Ser3171Ter
XM_006710597.2:c.9033_9034del	XP_006710660.1:p.Ser3012Ter
XM_011541317.1:c.9582_9583del	XP_011539619.1:p.Ser3195Ter
XM_011541318.1:c.9582_9583del	XP_011539620.1:p.Ser3195Ter
XM_011541319.1:c.9582_9583del	XP_011539621.1:p.Ser3195Ter
XM_011541320.1:c.9303_9304del	XP_011539622.1:p.Ser3102Ter
XM_011541321.1:c.9087_9088del	XP_011539623.1:p.Ser3030Ter
XM_011541318.2:c.9582_9583del	XP_011539620.1:p.Ser3195Ter
XM_017001120.1:c.9228_9229del	XP_016856609.1:p.Ser3077Ter
XM_017001121.1:c.9177_9178del	XP_016856610.1:p.Ser3060Ter
XM_017001122.1:c.9174_9175del	XP_016856611.1:p.Ser3059Ter
NM_005529.7:c.9033_9034del MANE Select	NP_005520.4:p.Ser3012Ter
NM_001291860.2:c.9036_9037del	NP_001278789.1:p.Ser3013Ter