Canonical Allele Identifier: CA7305704

Gene: CALM1

Linked Data

• ClinVar Variation Id: 422480
• ClinVar RCV Id: RCV000483763
• dbSNP Id: rs750958998
• ExAC: 14:90863536 A / ACC
• gnomAD v2: 14-90863536-A-ACC
• gnomAD v3: 14-90397192-A-ACC
• gnomAD v4: 14-90397192-A-ACC
• MyVariant Identifiers: chr14:g.90863538_90863539dupCC (hg19) ; chr14:g.90863536_90863537insCC (hg19) ; chr14:g.90397194_90397195dupCC (hg38) ; chr14:g.90397192_90397193insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90397194_90397195dup , CM000676.2:g.90397194_90397195dup	GRCh38
NC_000014.8:g.90863538_90863539dup , CM000676.1:g.90863538_90863539dup	GRCh37
NC_000014.7:g.89933291_89933292dup	NCBI36
NG_013338.1:g.5212_5213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.-37_-36dup MANE Select	ENSP00000349467.4:n.-37_-36dup
ENST00000447653.8:c.-242_-241dup	ENSP00000403491.4:n.-242_-241dup
ENST00000356978.8:c.-37_-36dup	ENSP00000349467.4:n.-37_-36dup
ENST00000447653.7:c.-131_-130dup	ENSP00000403491.3:n.-131_-130dup
ENST00000553542.5:c.-106+40_-106+41dup	ENSP00000450829.1:n.-106+40_-106+41dup
ENST00000553630.1:c.-37_-36dup	ENSP00000451646.1:n.-37_-36dup
ENST00000553995.5:n.163_164dup
ENST00000555132.5:n.163_164dup
ENST00000556757.5:n.163_164dup
ENST00000557020.5:c.-106+536_-106+537dup	ENSP00000451062.1:n.-106+536_-106+537dup
ENST00000557123.5:n.163_164dup
ENST00000626705.2:c.-37_-36dup	ENSP00000486402.1:n.-37_-36dup
NM_006888.4:c.-37_-36dup	NP_008819.1:n.-37_-36dup
NM_001363669.1:c.-106+536_-106+537dup	NP_001350598.1:n.-106+536_-106+537dup
NM_006888.5:c.-37_-36dup	NP_008819.1:n.-37_-36dup
NM_006888.6:c.-37_-36dup MANE Select	NP_008819.1:n.-37_-36dup
NM_001363669.2:c.-106+536_-106+537dup	NP_001350598.1:n.-106+536_-106+537dup