Canonical Allele Identifier: CA2579769822

Gene: CALM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404433_90404435delinsCGG , CM000676.2:g.90404433_90404435delinsCGG	GRCh38
NC_000014.8:g.90870777_90870779delinsCGG , CM000676.1:g.90870777_90870779delinsCGG	GRCh37
NC_000014.7:g.89940530_89940532delinsCGG	NCBI36
NG_013338.1:g.12451_12453delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.340_342delinsCGG MANE Select	ENSP00000349467.4:p.Gly114Arg
ENST00000447653.8:c.232_234delinsCGG	ENSP00000403491.4:p.Gly78Arg
ENST00000659177.1:c.232_234delinsCGG	ENSP00000499421.1:p.Gly78Arg
ENST00000663135.1:c.232_234delinsCGG	ENSP00000499498.1:p.Gly78Arg
ENST00000356978.8:c.340_342delinsCGG	ENSP00000349467.4:p.Gly114Arg
ENST00000447653.7:c.343_345delinsCGG	ENSP00000403491.3:p.Gly115Arg
ENST00000544280.6:c.232_234delinsCGG	ENSP00000442853.2:p.Gly78Arg
ENST00000553422.1:c.212_214delinsCGG	ENSP00000450425.1:p.Arg71_Arg72delinsThrGly
ENST00000553542.5:c.232_234delinsCGG	ENSP00000450829.1:p.Gly78Arg
ENST00000553630.1:c.233_235delinsCGG	ENSP00000451646.1:p.Arg78_Arg79delinsThrGly
ENST00000553964.5:n.2470_2472delinsCGG
ENST00000554296.1:n.392_394delinsCGG
ENST00000556721.1:n.266_268delinsCGG
ENST00000557020.5:c.232_234delinsCGG	ENSP00000451062.1:p.Gly78Arg
ENST00000626705.2:c.166-24_166-22delinsCGG	ENSP00000486402.1:n.166-24_166-22delinsCGG
NM_006888.4:c.340_342delinsCGG	NP_008819.1:p.Gly114Arg
XM_006720258.2:c.343_345delinsCGG	XP_006720321.1:p.Gly115Arg
NM_001363669.1:c.232_234delinsCGG	NP_001350598.1:p.Gly78Arg
NM_001363670.1:c.343_345delinsCGG	NP_001350599.1:p.Gly115Arg
NM_006888.5:c.340_342delinsCGG	NP_008819.1:p.Gly114Arg
NM_006888.6:c.340_342delinsCGG MANE Select	NP_008819.1:p.Gly114Arg
NM_001363669.2:c.232_234delinsCGG	NP_001350598.1:p.Gly78Arg
NM_001363670.2:c.343_345delinsCGG	NP_001350599.1:p.Gly115Arg