Canonical Allele Identifier: CA918189427
Gene: CSMD1 HGNC NCBI

Linked Data

dbSNP Id: rs1563162252
gnomAD v3: 8-4427490-CA-C
gnomAD v4: 8-4427490-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4427491del , CM000670.2:g.4427491del GRCh38
NC_000008.10:g.4285013del , CM000670.1:g.4285013del GRCh37
NC_000008.9:g.4272421del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.303-7426del MANE Select ENSP00000489225.1:n.303-7426del
ENST00000400186.7:c.303-7426del ENSP00000383047.3:n.303-7426del
ENST00000520002.5:c.303-7426del ENSP00000430733.1:n.303-7426del
ENST00000602557.5:c.303-7426del ENSP00000473359.1:n.303-7426del
ENST00000602723.5:c.303-7426del ENSP00000473617.1:n.303-7426del
ENST00000635120.1:c.303-7426del ENSP00000489225.1:n.303-7426del
NM_033225.5:c.303-7426del NP_150094.5:n.303-7426del
XM_011534752.1:c.303-7426del XP_011533054.1:n.303-7426del
XM_011534752.2:c.303-7426del XP_011533054.1:n.303-7426del
XM_017013731.1:c.303-7426del XP_016869220.1:n.303-7426del
NM_033225.6:c.303-7426del MANE Select NP_150094.5:n.303-7426del
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