Canonical Allele Identifier: CA579403597

Gene: CSMD1

Linked Data

• dbSNP Id: rs1212974977
• gnomAD v2: 8-4285559-T-TGCTATTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG
• gnomAD v3: 8-4428037-T-TGCTATTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG
• gnomAD v4: 8-4428037-T-TGCTATTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG
• MyVariant Identifiers: chr8:g.4285559_4285560insGCTATTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG (hg19) ; chr8:g.4428037_4428038insGCTATTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4428046_4428047insTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGCTATTGTT , CM000670.2:g.4428046_4428047insTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGCTATTGTT	GRCh38
NC_000008.10:g.4285568_4285569insTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGCTATTGTT , CM000670.1:g.4285568_4285569insTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGCTATTGTT	GRCh37
NC_000008.9:g.4272976_4272977insTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGCTATTGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC MANE Select	ENSP00000489225.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
ENST00000400186.7:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	ENSP00000383047.3:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
ENST00000520002.5:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	ENSP00000430733.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
ENST00000602557.5:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	ENSP00000473359.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
ENST00000602723.5:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	ENSP00000473617.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
ENST00000635120.1:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	ENSP00000489225.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAA...
NM_033225.5:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	NP_150094.5:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAA...
XM_011534752.1:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	XP_011533054.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAA...
XM_011534752.2:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	XP_011533054.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAA...
XM_017013731.1:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC	XP_016869220.1:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAA...
NM_033225.6:c.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAACAATAGC MANE Select	NP_150094.5:n.303-7973_303-7972insCTAAAACTTAGAGTATAATAAAAAAAA...