Canonical Allele Identifier: CA2590986767

Gene: CSMD1

Linked Data

• dbSNP Id: rs2116928003
• gnomAD v3: 8-3234130-GAAGCTCCACATCA-G
• gnomAD v4: 8-3234130-GAAGCTCCACATCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3234131_3234143del , CM000670.2:g.3234131_3234143del	GRCh38
NC_000008.10:g.3091653_3091665del , CM000670.1:g.3091653_3091665del	GRCh37
NC_000008.9:g.3079060_3079072del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.4154-3912_4154-3900del MANE Select	ENSP00000489225.1:n.4154-3912_4154-3900del
ENST00000335551.11:c.2595-3912_2595-3900del
ENST00000400186.7:c.4157-3912_4157-3900del	ENSP00000383047.3:n.4157-3912_4157-3900del
ENST00000520002.5:c.4157-3912_4157-3900del	ENSP00000430733.1:n.4157-3912_4157-3900del
ENST00000523387.5:n.387-3912_387-3900del
ENST00000523488.5:n.1687-3912_1687-3900del
ENST00000537824.2:c.3740-3912_3740-3900del	ENSP00000441462.2:n.3740-3912_3740-3900del
ENST00000602557.5:c.4157-3912_4157-3900del	ENSP00000473359.1:n.4157-3912_4157-3900del
ENST00000602723.5:c.4157-3912_4157-3900del	ENSP00000473617.1:n.4157-3912_4157-3900del
ENST00000635120.1:c.4154-3912_4154-3900del	ENSP00000489225.1:n.4154-3912_4154-3900del
NM_033225.5:c.4154-3912_4154-3900del	NP_150094.5:n.4154-3912_4154-3900del
XM_011534752.1:c.4154-3912_4154-3900del	XP_011533054.1:n.4154-3912_4154-3900del
XM_011534753.1:c.1247-3912_1247-3900del	XP_011533055.1:n.1247-3912_1247-3900del
XM_011534754.1:c.176-3912_176-3900del	XP_011533056.1:n.176-3912_176-3900del
XM_011534752.2:c.4154-3912_4154-3900del	XP_011533054.1:n.4154-3912_4154-3900del
XM_011534753.3:c.1247-3912_1247-3900del	XP_011533055.1:n.1247-3912_1247-3900del
XM_017013731.1:c.4154-3912_4154-3900del	XP_016869220.1:n.4154-3912_4154-3900del
NM_033225.6:c.4154-3912_4154-3900del MANE Select	NP_150094.5:n.4154-3912_4154-3900del