Canonical Allele Identifier: CA710195707

Gene: CLMN

Linked Data

• dbSNP Id: rs1232272149
• gnomAD v3: 14-95298201-C-CTCCCT
• gnomAD v4: 14-95298201-C-CTCCCT
• MyVariant Identifiers: chr14:g.95764538_95764539insTCCCT (hg19) ; chr14:g.95298201_95298202insTCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95298211_95298215dup , CM000676.2:g.95298211_95298215dup	GRCh38
NC_000014.8:g.95764548_95764552dup , CM000676.1:g.95764548_95764552dup	GRCh37
NC_000014.7:g.94834301_94834305dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298912.9:c.82+21505_82+21509dup MANE Select	ENSP00000298912.3:n.82+21505_82+21509dup
ENST00000298912.8:c.82+21505_82+21509dup	ENSP00000298912.3:n.82+21505_82+21509dup
ENST00000553733.1:c.82+21505_82+21509dup	ENSP00000451189.1:n.82+21505_82+21509dup
ENST00000555615.1:c.-123+9308_-123+9312dup	ENSP00000452525.1:n.-123+9308_-123+9312dup
NM_024734.3:c.82+21505_82+21509dup	NP_079010.2:n.82+21505_82+21509dup
XM_011537158.1:c.82+21505_82+21509dup	XP_011535460.1:n.82+21505_82+21509dup
XM_011537159.1:c.82+21505_82+21509dup	XP_011535461.1:n.82+21505_82+21509dup
XR_245721.2:n.194+21505_194+21509dup
XR_429330.2:n.194+21505_194+21509dup
XR_429332.2:n.194+21505_194+21509dup
XM_011537159.2:c.82+21505_82+21509dup	XP_011535461.1:n.82+21505_82+21509dup
XM_017021646.1:c.22+21033_22+21037dup	XP_016877135.1:n.22+21033_22+21037dup
XM_017021647.1:c.82+21505_82+21509dup	XP_016877136.1:n.82+21505_82+21509dup
XR_001750558.1:n.194+21505_194+21509dup
NM_024734.4:c.82+21505_82+21509dup MANE Select	NP_079010.2:n.82+21505_82+21509dup