Canonical Allele Identifier: CA996416861

Gene: CALM3

Linked Data

• dbSNP Id: rs1971798558
• gnomAD v3: 19-46608690-CCCGGTG-C
• gnomAD v4: 19-46608690-CCCGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608693_46608698del , CM000681.2:g.46608693_46608698del	GRCh38
NC_000019.9:g.47111950_47111955del , CM000681.1:g.47111950_47111955del	GRCh37
NC_000019.8:g.51803790_51803795del	NCBI36
NG_051331.1:g.12620_12625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.285+105_285+110del MANE Select	ENSP00000291295.8:n.285+105_285+110del
ENST00000595072.2:n.2714+105_2714+110del
ENST00000602169.2:c.*321+105_*321+110del	ENSP00000499372.1:n.*321+105_*321+110del
ENST00000291295.13:c.285+105_285+110del	ENSP00000291295.8:n.285+105_285+110del
ENST00000391918.6:c.177+105_177+110del	ENSP00000375785.2:n.177+105_177+110del
ENST00000477244.5:n.409+105_409+110del
ENST00000482455.5:n.395+105_395+110del
ENST00000486500.1:n.591_596del
ENST00000594523.5:c.177+105_177+110del	ENSP00000468877.1:n.177+105_177+110del
ENST00000595072.1:n.475+105_475+110del
ENST00000596362.1:c.285+105_285+110del	ENSP00000472141.1:n.285+105_285+110del
ENST00000597743.5:c.166-231_166-226del	ENSP00000470308.1:n.166-231_166-226del
ENST00000597868.5:n.458_463del
ENST00000598871.5:c.177+105_177+110del	ENSP00000470502.1:n.177+105_177+110del
ENST00000599839.5:c.177+105_177+110del	ENSP00000471225.1:n.177+105_177+110del
NM_005184.2:c.285+105_285+110del	NP_005175.2:n.285+105_285+110del
NM_001329921.1:c.177+105_177+110del	NP_001316850.1:n.177+105_177+110del
NM_001329922.1:c.285+105_285+110del	NP_001316851.1:n.285+105_285+110del
NM_001329923.1:c.177+105_177+110del	NP_001316852.1:n.177+105_177+110del
NM_001329924.1:c.177+105_177+110del	NP_001316853.1:n.177+105_177+110del
NM_001329925.1:c.177+105_177+110del	NP_001316854.1:n.177+105_177+110del
NM_001329926.1:c.177+105_177+110del	NP_001316855.1:n.177+105_177+110del
NM_005184.3:c.285+105_285+110del	NP_005175.2:n.285+105_285+110del
NM_001329924.2:c.177+105_177+110del	NP_001316853.1:n.177+105_177+110del
NM_001329925.2:c.177+105_177+110del	NP_001316854.1:n.177+105_177+110del
NM_001329926.2:c.177+105_177+110del	NP_001316855.1:n.177+105_177+110del
NM_005184.4:c.285+105_285+110del MANE Select	NP_005175.2:n.285+105_285+110del