Canonical Allele Identifier: CA996416802

Gene: CALM3

Linked Data

• gnomAD v3: 19-46608591-A-ACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
• gnomAD v4: 19-46608591-A-ACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46608591_46608592insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG , CM000681.2:g.46608591_46608592insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	GRCh38
NC_000019.9:g.47111848_47111849insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG , CM000681.1:g.47111848_47111849insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	GRCh37
NC_000019.8:g.51803688_51803689insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NCBI36
NG_051331.1:g.12518_12519insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291295.14:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG MANE Select	ENSP00000291295.8:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000595072.2:n.2714+3_2714+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000602169.2:c.*321+3_*321+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000499372.1:n.*321+3_*321+4insCATCAGCGCCGCAGAGCTGCGTCAC...
ENST00000291295.13:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000291295.8:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000391918.6:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000375785.2:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000477244.5:n.409+3_409+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000482455.5:n.395+3_395+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000486500.1:n.489_490insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000594523.5:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000468877.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000595072.1:n.475+3_475+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000596362.1:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000472141.1:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000597743.5:c.165+264_165+265insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000470308.1:n.165+264_165+265insCATCAGCGCCGCAGAGCTGCGTC...
ENST00000597868.5:n.356_357insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG
ENST00000598871.5:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000470502.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
ENST00000599839.5:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	ENSP00000471225.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGT...
NM_005184.2:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_005175.2:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGAC...
NM_001329921.1:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316850.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329922.1:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316851.1:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329923.1:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316852.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329924.1:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316853.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329925.1:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316854.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329926.1:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316855.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_005184.3:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_005175.2:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGAC...
NM_001329924.2:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316853.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329925.2:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316854.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_001329926.2:c.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG	NP_001316855.1:n.177+3_177+4insCATCAGCGCCGCAGAGCTGCGTCACGTAAT...
NM_005184.4:c.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATG MANE Select	NP_005175.2:n.285+3_285+4insCATCAGCGCCGCAGAGCTGCGTCACGTAATGAC...