Canonical Allele Identifier: CA2573134661
Community Standard Title: NM_001743.6(CALM2):c.422-13del
Gene: CALM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47160818del , CM000664.2:g.47160818del GRCh38
NC_000002.11:g.47387957del , CM000664.1:g.47387957del GRCh37
NC_000002.10:g.47241461del NCBI36
NG_042065.1:g.21120del

Transcript Alleles

HGVS Amino-acid Change
NM_001743.6:c.422-13del MANE Select NP_001734.1:n.422-13del
ENST00000272298.12:c.422-13del MANE Select ENSP00000272298.7:n.422-13del
NM_001305624.1:c.566-13del NP_001292553.1:n.566-13del
NM_001305625.1:c.314-13del NP_001292554.1:n.314-13del
NM_001305625.2:c.314-13del NP_001292554.1:n.314-13del
NM_001305626.1:c.314-13del NP_001292555.1:n.314-13del
NM_001743.4:c.422-13del NP_001734.1:n.422-13del
NM_001743.5:c.422-13del NP_001734.1:n.422-13del
ENST00000272298.11:c.422-13del ENSP00000272298.7:n.422-13del
ENST00000409563.5:c.563-13del ENSP00000387065.1:n.563-13del
ENST00000422269.1:c.103-7801del
ENST00000432899.5:c.*117-13del ENSP00000406112.1:n.*117-13del
ENST00000456319.5:c.536-13del ENSP00000411440.1:n.536-13del
ENST00000456319.6:c.314-13del ENSP00000411440.2:n.314-13del
ENST00000460218.5:n.3862-13del
ENST00000482532.5:n.1689-13del
ENST00000628793.2:c.224-13del ENSP00000486952.1:n.224-13del
ENST00000652974.1:c.*406-13del ENSP00000499369.1:n.*406-13del
ENST00000655450.1:c.314-13del ENSP00000499266.1:n.314-13del
ENST00000655728.1:c.314-13del ENSP00000499656.1:n.314-13del
ENST00000656538.1:c.314-13del ENSP00000499357.1:n.314-13del
ENST00000668667.1:c.314-13del ENSP00000499706.1:n.314-13del
ENST00000670593.1:n.1327-13del