Canonical Allele Identifier: CA2743114023

Gene: CSMD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33517460_33517463del , CM000663.2:g.33517460_33517463del	GRCh38
NC_000001.10:g.33983060_33983063del , CM000663.1:g.33983060_33983063del	GRCh37
NC_000001.9:g.33755647_33755650del	NCBI36
NG_053181.1:g.653386_653389del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373381.9:c.*54-887_*54-884del MANE Select	ENSP00000362479.4:n.*54-887_*54-884del
ENST00000373388.7:c.*54-887_*54-884del	ENSP00000362486.3:n.*54-887_*54-884del
ENST00000241312.8:c.*54-887_*54-884del	ENSP00000241312.4:n.*54-887_*54-884del
ENST00000373381.8:c.*54-887_*54-884del	ENSP00000362479.4:n.*54-887_*54-884del
ENST00000373388.6:c.*54-887_*54-884del	ENSP00000362486.3:n.*54-887_*54-884del
ENST00000619121.4:c.*54-887_*54-884del	ENSP00000483463.1:n.*54-887_*54-884del
NM_001281956.1:c.*54-887_*54-884del	NP_001268885.1:n.*54-887_*54-884del
NM_052896.4:c.*54-887_*54-884del	NP_443128.2:n.*54-887_*54-884del
XM_011540572.1:c.*177_*180del	XP_011538874.1:n.*177_*180del
XM_017000185.1:c.*2061_*2064del	XP_016855674.1:n.*2061_*2064del
XM_017000188.1:c.*2061_*2064del	XP_016855677.1:n.*2061_*2064del
XM_017000190.1:c.*2061_*2064del	XP_016855679.1:n.*2061_*2064del
XM_024452878.1:c.*2061_*2064del	XP_024308646.1:n.*2061_*2064del
XR_002959290.1:n.11049-887_11049-884del
XR_002959291.1:n.10875-887_10875-884del
XR_002959296.1:n.10784-887_10784-884del
NM_001281956.2:c.*54-887_*54-884del MANE Select	NP_001268885.1:n.*54-887_*54-884del
NM_052896.5:c.*54-887_*54-884del	NP_443128.2:n.*54-887_*54-884del