Canonical Allele Identifier: CA9529764

Gene: CALM3

Linked Data

• dbSNP Id: rs559310165
• ExAC: 19:47111628 GCTC / G
• gnomAD v2: 19-47111628-GCTC-G
• gnomAD v3: 19-46608371-GCTC-G
• gnomAD v4: 19-46608371-GCTC-G
• MyVariant Identifiers: chr19:g.47111629_47111631del (hg19) ; chr19:g.46608372_46608374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608374_46608376del , CM000681.2:g.46608374_46608376del	GRCh38
NC_000019.9:g.47111631_47111633del , CM000681.1:g.47111631_47111633del	GRCh37
NC_000019.8:g.51803471_51803473del	NCBI36
NG_051331.1:g.12301_12303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.178+34_178+36del MANE Select	ENSP00000291295.8:n.178+34_178+36del
ENST00000595072.2:n.2607+34_2607+36del
ENST00000602169.2:c.*214+34_*214+36del	ENSP00000499372.1:n.*214+34_*214+36del
ENST00000291295.13:c.178+34_178+36del	ENSP00000291295.8:n.178+34_178+36del
ENST00000391918.6:c.70+34_70+36del	ENSP00000375785.2:n.70+34_70+36del
ENST00000477244.5:n.302+34_302+36del
ENST00000482455.5:n.288+34_288+36del
ENST00000486500.1:n.379+34_379+36del
ENST00000594523.5:c.70+34_70+36del	ENSP00000468877.1:n.70+34_70+36del
ENST00000595072.1:n.368+34_368+36del
ENST00000596362.1:c.178+34_178+36del	ENSP00000472141.1:n.178+34_178+36del
ENST00000597743.5:c.165+47_165+49del	ENSP00000470308.1:n.165+47_165+49del
ENST00000597868.5:n.246+34_246+36del
ENST00000598871.5:c.70+34_70+36del	ENSP00000470502.1:n.70+34_70+36del
ENST00000599839.5:c.70+34_70+36del	ENSP00000471225.1:n.70+34_70+36del
NM_005184.2:c.178+34_178+36del	NP_005175.2:n.178+34_178+36del
NM_001329921.1:c.70+34_70+36del	NP_001316850.1:n.70+34_70+36del
NM_001329922.1:c.178+34_178+36del	NP_001316851.1:n.178+34_178+36del
NM_001329923.1:c.70+34_70+36del	NP_001316852.1:n.70+34_70+36del
NM_001329924.1:c.70+34_70+36del	NP_001316853.1:n.70+34_70+36del
NM_001329925.1:c.70+34_70+36del	NP_001316854.1:n.70+34_70+36del
NM_001329926.1:c.70+34_70+36del	NP_001316855.1:n.70+34_70+36del
NM_005184.3:c.178+34_178+36del	NP_005175.2:n.178+34_178+36del
NM_001329924.2:c.70+34_70+36del	NP_001316853.1:n.70+34_70+36del
NM_001329925.2:c.70+34_70+36del	NP_001316854.1:n.70+34_70+36del
NM_001329926.2:c.70+34_70+36del	NP_001316855.1:n.70+34_70+36del
NM_005184.4:c.178+34_178+36del MANE Select	NP_005175.2:n.178+34_178+36del