Canonical Allele Identifier: CA134909

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 44700
• ClinVar RCV Id: RCV000037786 ; RCV003993758 ; RCV004018849 ; RCV001427729 ; RCV001781355
• dbSNP Id: rs397516858
• ExAC: 11:19204294 CTG / C
• gnomAD v2: 11-19204294-CTG-C
• gnomAD v3: 11-19182747-CTG-C
• gnomAD v4: 11-19182747-CTG-C
• MyVariant Identifiers: chr11:g.19204295_19204296del (hg19) ; chr11:g.19182749_19182750del (hg38) ; chr11:g.19182748_19182749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19182750_19182751del , CM000673.2:g.19182750_19182751del	GRCh38
NC_000011.9:g.19204297_19204298del , CM000673.1:g.19204297_19204298del	GRCh37
NC_000011.8:g.19160873_19160874del	NCBI36
NG_011932.2:g.32825_32826del , LRG_440:g.32825_32826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.509-3_509-2del MANE Select	ENSP00000265968.3:n.509-3_509-2del
ENST00000533783.2:c.509-3_509-2del	ENSP00000431813.1:n.509-3_509-2del
ENST00000647990.1:c.376-3_376-2del	ENSP00000496798.1:n.376-3_376-2del
ENST00000648719.1:c.*27-3_*27-2del	ENSP00000497633.1:n.*27-3_*27-2del
ENST00000649235.1:c.509-3_509-2del	ENSP00000497388.1:n.509-3_509-2del
ENST00000649842.1:c.340-3_340-2del	ENSP00000497531.1:n.340-3_340-2del
ENST00000265968.7:c.509-3_509-2del	ENSP00000265968.3:n.509-3_509-2del
ENST00000533783.1:c.509-3_509-2del	ENSP00000431813.1:n.509-3_509-2del
NM_003476.4:c.509-3_509-2del	NP_003467.1:n.509-3_509-2del
XM_024448698.1:c.340-3_340-2del	XP_024304466.1:n.340-3_340-2del
NM_001369404.1:c.340-3_340-2del	NP_001356333.1:n.340-3_340-2del
NM_003476.5:c.509-3_509-2del MANE Select	NP_003467.1:n.509-3_509-2del