Canonical Allele Identifier: CA710195703

Gene: CLMN

Linked Data

• dbSNP Id: rs1452026149
• gnomAD v3: 14-95298165-GCA-G
• gnomAD v4: 14-95298165-GCA-G
• MyVariant Identifiers: chr14:g.95764503_95764504del (hg19) ; chr14:g.95298166_95298167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95298167_95298168del , CM000676.2:g.95298167_95298168del	GRCh38
NC_000014.8:g.95764504_95764505del , CM000676.1:g.95764504_95764505del	GRCh37
NC_000014.7:g.94834257_94834258del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298912.9:c.82+21544_82+21545del MANE Select	ENSP00000298912.3:n.82+21544_82+21545del
ENST00000298912.8:c.82+21544_82+21545del	ENSP00000298912.3:n.82+21544_82+21545del
ENST00000553733.1:c.82+21544_82+21545del	ENSP00000451189.1:n.82+21544_82+21545del
ENST00000555615.1:c.-123+9347_-123+9348del	ENSP00000452525.1:n.-123+9347_-123+9348del
NM_024734.3:c.82+21544_82+21545del	NP_079010.2:n.82+21544_82+21545del
XM_011537158.1:c.82+21544_82+21545del	XP_011535460.1:n.82+21544_82+21545del
XM_011537159.1:c.82+21544_82+21545del	XP_011535461.1:n.82+21544_82+21545del
XR_245721.2:n.194+21544_194+21545del
XR_429330.2:n.194+21544_194+21545del
XR_429332.2:n.194+21544_194+21545del
XM_011537159.2:c.82+21544_82+21545del	XP_011535461.1:n.82+21544_82+21545del
XM_017021646.1:c.22+21072_22+21073del	XP_016877135.1:n.22+21072_22+21073del
XM_017021647.1:c.82+21544_82+21545del	XP_016877136.1:n.82+21544_82+21545del
XR_001750558.1:n.194+21544_194+21545del
NM_024734.4:c.82+21544_82+21545del MANE Select	NP_079010.2:n.82+21544_82+21545del