Canonical Allele Identifier: CA175596

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 163005
• ClinVar RCV Id: RCV000150365 ; RCV003993829
• dbSNP Id: rs727502946
• gnomAD v4: 11-19182672-ATTCT-A
• MyVariant Identifiers: chr11:g.19204220_19204223del (hg19) ; chr11:g.19182673_19182676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19182679_19182682del , CM000673.2:g.19182679_19182682del	GRCh38
NC_000011.9:g.19204226_19204229del , CM000673.1:g.19204226_19204229del	GRCh37
NC_000011.8:g.19160802_19160805del	NCBI36
NG_011932.2:g.32898_32901del , LRG_440:g.32898_32901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.579_582del MANE Select	ENSP00000265968.3:p.Lys193AsnfsTer14
ENST00000533783.2:c.579_582del	ENSP00000431813.1:p.Lys193AsnfsTer14
ENST00000647990.1:c.446_449del	ENSP00000496798.1:p.Lys149MetfsTer19
ENST00000648719.1:c.*97_*100del	ENSP00000497633.1:n.*97_*100del
ENST00000649235.1:c.579_582del	ENSP00000497388.1:p.Lys193AsnfsTer14
ENST00000649842.1:c.410_413del	ENSP00000497531.1:p.Lys137MetfsTer19
ENST00000265968.7:c.579_582del	ENSP00000265968.3:p.Lys193AsnfsTer14
ENST00000533783.1:c.579_582del	ENSP00000431813.1:p.Lys193AsnfsTer14
NM_003476.4:c.579_582del	NP_003467.1:p.Lys193AsnfsTer14
XM_024448698.1:c.410_413del	XP_024304466.1:p.Lys137MetfsTer19
NM_001369404.1:c.410_413del	NP_001356333.1:p.Lys137MetfsTer19
NM_003476.5:c.579_582del MANE Select	NP_003467.1:p.Lys193AsnfsTer14