Canonical Allele Identifier: CA218632590

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 1175655
• ClinVar RCV Id: RCV001530863
• dbSNP Id: rs375337983
• gnomAD v2: 11-19206385-AG-A
• gnomAD v3: 11-19184838-AG-A
• gnomAD v4: 11-19184838-AG-A
• MyVariant Identifiers: chr11:g.19206386del (hg19) ; chr11:g.19184839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19184839del , CM000673.2:g.19184839del	GRCh38
NC_000011.9:g.19206386del , CM000673.1:g.19206386del	GRCh37
NC_000011.8:g.19162962del	NCBI36
NG_011932.2:g.30735del , LRG_440:g.30735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.508+113del MANE Select	ENSP00000265968.3:n.508+113del
ENST00000533783.2:c.508+113del	ENSP00000431813.1:n.508+113del
ENST00000647990.1:c.375+113del	ENSP00000496798.1:n.375+113del
ENST00000648719.1:c.*26+113del	ENSP00000497633.1:n.*26+113del
ENST00000649235.1:c.508+113del	ENSP00000497388.1:n.508+113del
ENST00000649842.1:c.339+113del	ENSP00000497531.1:n.339+113del
ENST00000265968.7:c.508+113del	ENSP00000265968.3:n.508+113del
ENST00000533783.1:c.508+113del	ENSP00000431813.1:n.508+113del
NM_003476.4:c.508+113del	NP_003467.1:n.508+113del
XM_024448698.1:c.339+113del	XP_024304466.1:n.339+113del
NM_001369404.1:c.339+113del	NP_001356333.1:n.339+113del
NM_003476.5:c.508+113del MANE Select	NP_003467.1:n.508+113del