Canonical Allele Identifier: CA2579772222
Community Standard Title: NM_006888.6(CALM1):c.395_396delinsTC (p.Asp132Val)
Gene: CALM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404488_90404489delinsTC , CM000676.2:g.90404488_90404489delinsTC GRCh38
NC_000014.8:g.90870832_90870833delinsTC , CM000676.1:g.90870832_90870833delinsTC GRCh37
NC_000014.7:g.89940585_89940586delinsTC NCBI36
NG_013338.1:g.12506_12507delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_006888.6:c.395_396delinsTC MANE Select NP_008819.1:p.Asp132Val
ENST00000356978.9:c.395_396delinsTC MANE Select ENSP00000349467.4:p.Asp132Val
NM_001363669.1:c.287_288delinsTC NP_001350598.1:p.Asp96Val
NM_001363669.2:c.287_288delinsTC NP_001350598.1:p.Asp96Val
NM_001363670.1:c.398_399delinsTC NP_001350599.1:p.Asp133Val
NM_001363670.2:c.398_399delinsTC NP_001350599.1:p.Asp133Val
NM_006888.4:c.395_396delinsTC NP_008819.1:p.Asp132Val
NM_006888.5:c.395_396delinsTC NP_008819.1:p.Asp132Val
ENST00000356978.8:c.395_396delinsTC ENSP00000349467.4:p.Asp132Val
ENST00000447653.7:c.398_399delinsTC ENSP00000403491.3:p.Asp133Val
ENST00000447653.8:c.287_288delinsTC ENSP00000403491.4:p.Asp96Val
ENST00000544280.6:c.287_288delinsTC ENSP00000442853.2:p.Asp96Val
ENST00000553422.1:c.267_268delinsTC ENSP00000450425.1:n.267_268delinsTC
ENST00000553542.5:c.287_288delinsTC ENSP00000450829.1:p.Asp96Val
ENST00000553630.1:c.*36_*37delinsTC ENSP00000451646.1:n.*36_*37delinsTC
ENST00000553964.5:n.2525_2526delinsTC
ENST00000554296.1:n.447_448delinsTC
ENST00000556721.1:n.321_322delinsTC
ENST00000557020.5:c.287_288delinsTC ENSP00000451062.1:p.Asp96Val
ENST00000626705.2:c.197_198delinsTC ENSP00000486402.1:p.Asp66Val
ENST00000659177.1:c.287_288delinsTC ENSP00000499421.1:p.Asp96Val
ENST00000663135.1:c.287_288delinsTC ENSP00000499498.1:p.Asp96Val
XM_006720258.2:c.398_399delinsTC XP_006720321.1:p.Asp133Val