Canonical Allele Identifier: CA2579771103

Gene: CALM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404397_90404399delinsCGG , CM000676.2:g.90404397_90404399delinsCGG	GRCh38
NC_000014.8:g.90870741_90870743delinsCGG , CM000676.1:g.90870741_90870743delinsCGG	GRCh37
NC_000014.7:g.89940494_89940496delinsCGG	NCBI36
NG_013338.1:g.12415_12417delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.304_306delinsCGG MANE Select	ENSP00000349467.4:p.Ser102Arg
ENST00000447653.8:c.196_198delinsCGG	ENSP00000403491.4:p.Ser66Arg
ENST00000659177.1:c.196_198delinsCGG	ENSP00000499421.1:p.Ser66Arg
ENST00000663135.1:c.196_198delinsCGG	ENSP00000499498.1:p.Ser66Arg
ENST00000356978.8:c.304_306delinsCGG	ENSP00000349467.4:p.Ser102Arg
ENST00000447653.7:c.307_309delinsCGG	ENSP00000403491.3:p.Ser103Arg
ENST00000544280.6:c.196_198delinsCGG	ENSP00000442853.2:p.Ser66Arg
ENST00000553422.1:c.178-2_178delinsCGG
ENST00000553542.5:c.196_198delinsCGG	ENSP00000450829.1:p.Ser66Arg
ENST00000553630.1:c.197_199delinsCGG	ENSP00000451646.1:p.Gln66_Cys67delinsProGly
ENST00000553964.5:n.2434_2436delinsCGG
ENST00000554296.1:n.356_358delinsCGG
ENST00000556721.1:n.230_232delinsCGG
ENST00000557020.5:c.196_198delinsCGG	ENSP00000451062.1:p.Ser66Arg
ENST00000626705.2:c.166-60_166-58delinsCGG	ENSP00000486402.1:n.166-60_166-58delinsCGG
NM_006888.4:c.304_306delinsCGG	NP_008819.1:p.Ser102Arg
XM_006720258.2:c.307_309delinsCGG	XP_006720321.1:p.Ser103Arg
NM_001363669.1:c.196_198delinsCGG	NP_001350598.1:p.Ser66Arg
NM_001363670.1:c.307_309delinsCGG	NP_001350599.1:p.Ser103Arg
NM_006888.5:c.304_306delinsCGG	NP_008819.1:p.Ser102Arg
NM_006888.6:c.304_306delinsCGG MANE Select	NP_008819.1:p.Ser102Arg
NM_001363669.2:c.196_198delinsCGG	NP_001350598.1:p.Ser66Arg
NM_001363670.2:c.307_309delinsCGG	NP_001350599.1:p.Ser103Arg