Canonical Allele Identifier: CA2579771524

Gene: CALM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404508_90404510delinsCTG , CM000676.2:g.90404508_90404510delinsCTG	GRCh38
NC_000014.8:g.90870852_90870854delinsCTG , CM000676.1:g.90870852_90870854delinsCTG	GRCh37
NC_000014.7:g.89940605_89940607delinsCTG	NCBI36
NG_013338.1:g.12526_12528delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.415_417delinsCTG MANE Select	ENSP00000349467.4:p.Tyr139Leu
ENST00000447653.8:c.307_309delinsCTG	ENSP00000403491.4:p.Tyr103Leu
ENST00000659177.1:c.307_309delinsCTG	ENSP00000499421.1:p.Tyr103Leu
ENST00000663135.1:c.307_309delinsCTG	ENSP00000499498.1:p.Tyr103Leu
ENST00000356978.8:c.415_417delinsCTG	ENSP00000349467.4:p.Tyr139Leu
ENST00000447653.7:c.418_420delinsCTG	ENSP00000403491.3:p.Tyr140Leu
ENST00000544280.6:c.307_309delinsCTG	ENSP00000442853.2:p.Tyr103Leu
ENST00000553422.1:c.287_289delinsCTG	ENSP00000450425.1:n.287_289delinsCTG
ENST00000553542.5:c.307_309delinsCTG	ENSP00000450829.1:p.Tyr103Leu
ENST00000553630.1:c.*56_*58delinsCTG	ENSP00000451646.1:n.*56_*58delinsCTG
ENST00000553964.5:n.2545_2547delinsCTG
ENST00000554296.1:n.467_469delinsCTG
ENST00000556721.1:n.341_343delinsCTG
ENST00000626705.2:c.217_219delinsCTG	ENSP00000486402.1:p.Tyr73Leu
NM_006888.4:c.415_417delinsCTG	NP_008819.1:p.Tyr139Leu
XM_006720258.2:c.418_420delinsCTG	XP_006720321.1:p.Tyr140Leu
NM_001363669.1:c.307_309delinsCTG	NP_001350598.1:p.Tyr103Leu
NM_001363670.1:c.418_420delinsCTG	NP_001350599.1:p.Tyr140Leu
NM_006888.5:c.415_417delinsCTG	NP_008819.1:p.Tyr139Leu
NM_006888.6:c.415_417delinsCTG MANE Select	NP_008819.1:p.Tyr139Leu
NM_001363669.2:c.307_309delinsCTG	NP_001350598.1:p.Tyr103Leu
NM_001363670.2:c.418_420delinsCTG	NP_001350599.1:p.Tyr140Leu