Canonical Allele Identifier: CA7305807
Gene: CALM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423014
ClinVar RCV Id: RCV000483518 RCV002063819
dbSNP Id: rs771894805
ExAC: 14:90870862 AAACT / A
gnomAD v2: 14-90870862-AAACT-A
gnomAD v4: 14-90404518-AAACT-A
MyVariant Identifiers: chr14:g.90870865_90870868del (hg19) chr14:g.90870863_90870866del (hg19) chr14:g.90404521_90404524del (hg38) chr14:g.90404519_90404522del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404521_90404524del , CM000676.2:g.90404521_90404524del GRCh38
NC_000014.8:g.90870865_90870868del , CM000676.1:g.90870865_90870868del GRCh37
NC_000014.7:g.89940618_89940621del NCBI36
NG_013338.1:g.12539_12542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356978.9:c.421+7_421+10del MANE Select ENSP00000349467.4:n.421+7_421+10del
ENST00000447653.8:c.313+7_313+10del ENSP00000403491.4:n.313+7_313+10del
ENST00000659177.1:c.313+7_313+10del ENSP00000499421.1:n.313+7_313+10del
ENST00000663135.1:c.313+7_313+10del ENSP00000499498.1:n.313+7_313+10del
ENST00000356978.8:c.421+7_421+10del ENSP00000349467.4:n.421+7_421+10del
ENST00000447653.7:c.424+7_424+10del ENSP00000403491.3:n.424+7_424+10del
ENST00000544280.6:c.313+7_313+10del ENSP00000442853.2:n.313+7_313+10del
ENST00000553422.1:c.293+7_293+10del ENSP00000450425.1:n.293+7_293+10del
ENST00000553542.5:c.313+7_313+10del ENSP00000450829.1:n.313+7_313+10del
ENST00000553630.1:c.*62+7_*62+10del ENSP00000451646.1:n.*62+7_*62+10del
ENST00000553964.5:n.2551+7_2551+10del
ENST00000554296.1:n.473+7_473+10del
ENST00000556721.1:n.347+7_347+10del
ENST00000626705.2:c.223+7_223+10del ENSP00000486402.1:n.223+7_223+10del
NM_006888.4:c.421+7_421+10del NP_008819.1:n.421+7_421+10del
XM_006720258.2:c.424+7_424+10del XP_006720321.1:n.424+7_424+10del
NM_001363669.1:c.313+7_313+10del NP_001350598.1:n.313+7_313+10del
NM_001363670.1:c.424+7_424+10del NP_001350599.1:n.424+7_424+10del
NM_006888.5:c.421+7_421+10del NP_008819.1:n.421+7_421+10del
NM_006888.6:c.421+7_421+10del MANE Select NP_008819.1:n.421+7_421+10del
NM_001363669.2:c.313+7_313+10del NP_001350598.1:n.313+7_313+10del
NM_001363670.2:c.424+7_424+10del NP_001350599.1:n.424+7_424+10del
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