Canonical Allele Identifier: CA658798245

Gene: CALM1

Linked Data

• ClinVar Variation Id: 513549
• ClinVar RCV Id: RCV000614298 ; RCV003767648
• dbSNP Id: rs1555365883
• gnomAD v4: 14-90401245-AC-A
• MyVariant Identifiers: chr14:g.90867590del (hg19) ; chr14:g.90401246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90401246del , CM000676.2:g.90401246del	GRCh38
NC_000014.8:g.90867590del , CM000676.1:g.90867590del	GRCh37
NC_000014.7:g.89937343del	NCBI36
NG_013338.1:g.9264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.35-13del MANE Select	ENSP00000349467.4:n.35-13del
ENST00000447653.8:c.-74-13del	ENSP00000403491.4:n.-74-13del
ENST00000659177.1:c.-74-13del	ENSP00000499421.1:n.-74-13del
ENST00000663135.1:c.-74-13del	ENSP00000499498.1:n.-74-13del
ENST00000356978.8:c.35-13del	ENSP00000349467.4:n.35-13del
ENST00000447653.7:c.38-13del	ENSP00000403491.3:n.38-13del
ENST00000544280.6:c.-74-13del	ENSP00000442853.2:n.-74-13del
ENST00000553542.5:c.-74-13del	ENSP00000450829.1:n.-74-13del
ENST00000553630.1:c.35-13del	ENSP00000451646.1:n.35-13del
ENST00000553964.5:n.2165-13del
ENST00000553995.5:n.234-13del
ENST00000555267.1:n.119-13del
ENST00000556757.5:n.234-13del
ENST00000557020.5:c.-74-13del	ENSP00000451062.1:n.-74-13del
ENST00000626705.2:c.35-13del	ENSP00000486402.1:n.35-13del
NM_006888.4:c.35-13del	NP_008819.1:n.35-13del
XM_006720258.2:c.38-13del	XP_006720321.1:n.38-13del
NM_001363669.1:c.-74-13del	NP_001350598.1:n.-74-13del
NM_001363670.1:c.38-13del	NP_001350599.1:n.38-13del
NM_006888.5:c.35-13del	NP_008819.1:n.35-13del
NM_006888.6:c.35-13del MANE Select	NP_008819.1:n.35-13del
NM_001363669.2:c.-74-13del	NP_001350598.1:n.-74-13del
NM_001363670.2:c.38-13del	NP_001350599.1:n.38-13del