Canonical Allele Identifier: CA2579770616
Community Standard Title: NM_006888.6(CALM1):c.395_396delinsGA (p.Asp132Gly)
Gene: CALM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404488_90404489delinsGA , CM000676.2:g.90404488_90404489delinsGA GRCh38
NC_000014.8:g.90870832_90870833delinsGA , CM000676.1:g.90870832_90870833delinsGA GRCh37
NC_000014.7:g.89940585_89940586delinsGA NCBI36
NG_013338.1:g.12506_12507delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_006888.6:c.395_396delinsGA MANE Select NP_008819.1:p.Asp132Gly
ENST00000356978.9:c.395_396delinsGA MANE Select ENSP00000349467.4:p.Asp132Gly
NM_001363669.1:c.287_288delinsGA NP_001350598.1:p.Asp96Gly
NM_001363669.2:c.287_288delinsGA NP_001350598.1:p.Asp96Gly
NM_001363670.1:c.398_399delinsGA NP_001350599.1:p.Asp133Gly
NM_001363670.2:c.398_399delinsGA NP_001350599.1:p.Asp133Gly
NM_006888.4:c.395_396delinsGA NP_008819.1:p.Asp132Gly
NM_006888.5:c.395_396delinsGA NP_008819.1:p.Asp132Gly
ENST00000356978.8:c.395_396delinsGA ENSP00000349467.4:p.Asp132Gly
ENST00000447653.7:c.398_399delinsGA ENSP00000403491.3:p.Asp133Gly
ENST00000447653.8:c.287_288delinsGA ENSP00000403491.4:p.Asp96Gly
ENST00000544280.6:c.287_288delinsGA ENSP00000442853.2:p.Asp96Gly
ENST00000553422.1:c.267_268delinsGA ENSP00000450425.1:n.267_268delinsGA
ENST00000553542.5:c.287_288delinsGA ENSP00000450829.1:p.Asp96Gly
ENST00000553630.1:c.*36_*37delinsGA ENSP00000451646.1:n.*36_*37delinsGA
ENST00000553964.5:n.2525_2526delinsGA
ENST00000554296.1:n.447_448delinsGA
ENST00000556721.1:n.321_322delinsGA
ENST00000557020.5:c.287_288delinsGA ENSP00000451062.1:p.Asp96Gly
ENST00000626705.2:c.197_198delinsGA ENSP00000486402.1:p.Asp66Gly
ENST00000659177.1:c.287_288delinsGA ENSP00000499421.1:p.Asp96Gly
ENST00000663135.1:c.287_288delinsGA ENSP00000499498.1:p.Asp96Gly
XM_006720258.2:c.398_399delinsGA XP_006720321.1:p.Asp133Gly