Canonical Allele Identifier: CA615853552

Gene: CLMN

Linked Data

• dbSNP Id: rs1456317643
• gnomAD v2: 14-95764597-AAAG-A
• MyVariant Identifiers: chr14:g.95764598_95764600del (hg19) ; chr14:g.95298261_95298263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95298265_95298267del , CM000676.2:g.95298265_95298267del	GRCh38
NC_000014.8:g.95764602_95764604del , CM000676.1:g.95764602_95764604del	GRCh37
NC_000014.7:g.94834355_94834357del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298912.9:c.82+21448_82+21450del MANE Select	ENSP00000298912.3:n.82+21448_82+21450del
ENST00000298912.8:c.82+21448_82+21450del	ENSP00000298912.3:n.82+21448_82+21450del
ENST00000553733.1:c.82+21448_82+21450del	ENSP00000451189.1:n.82+21448_82+21450del
ENST00000555615.1:c.-123+9251_-123+9253del	ENSP00000452525.1:n.-123+9251_-123+9253del
NM_024734.3:c.82+21448_82+21450del	NP_079010.2:n.82+21448_82+21450del
XM_011537158.1:c.82+21448_82+21450del	XP_011535460.1:n.82+21448_82+21450del
XM_011537159.1:c.82+21448_82+21450del	XP_011535461.1:n.82+21448_82+21450del
XR_245721.2:n.194+21448_194+21450del
XR_429330.2:n.194+21448_194+21450del
XR_429332.2:n.194+21448_194+21450del
XM_011537159.2:c.82+21448_82+21450del	XP_011535461.1:n.82+21448_82+21450del
XM_017021646.1:c.22+20976_22+20978del	XP_016877135.1:n.22+20976_22+20978del
XM_017021647.1:c.82+21448_82+21450del	XP_016877136.1:n.82+21448_82+21450del
XR_001750558.1:n.194+21448_194+21450del
NM_024734.4:c.82+21448_82+21450del MANE Select	NP_079010.2:n.82+21448_82+21450del