Canonical Allele Identifier: CA2579770560

Gene: CALM1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90403951_90403953delinsCTG , CM000676.2:g.90403951_90403953delinsCTG	GRCh38
NC_000014.8:g.90870295_90870297delinsCTG , CM000676.1:g.90870295_90870297delinsCTG	GRCh37
NC_000014.7:g.89940048_89940050delinsCTG	NCBI36
NG_013338.1:g.11969_11971delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.268_270delinsCTG MANE Select	ENSP00000349467.4:p.Phe90Leu
ENST00000447653.8:c.160_162delinsCTG	ENSP00000403491.4:p.Phe54Leu
ENST00000659177.1:c.160_162delinsCTG	ENSP00000499421.1:p.Phe54Leu
ENST00000663135.1:c.160_162delinsCTG	ENSP00000499498.1:p.Phe54Leu
ENST00000356978.8:c.268_270delinsCTG	ENSP00000349467.4:p.Phe90Leu
ENST00000447653.7:c.271_273delinsCTG	ENSP00000403491.3:p.Phe91Leu
ENST00000544280.6:c.160_162delinsCTG	ENSP00000442853.2:p.Phe54Leu
ENST00000553422.1:c.160_162delinsCTG	ENSP00000450425.1:p.Phe54Leu
ENST00000553542.5:c.160_162delinsCTG	ENSP00000450829.1:p.Phe54Leu
ENST00000553630.1:c.179-428_179-426delinsCTG	ENSP00000451646.1:n.179-428_179-426delinsCTG
ENST00000553964.5:n.2398_2400delinsCTG
ENST00000553995.5:n.467_469delinsCTG
ENST00000554296.1:n.320_322delinsCTG
ENST00000555267.1:n.352_354delinsCTG
ENST00000557020.5:c.160_162delinsCTG	ENSP00000451062.1:p.Phe54Leu
ENST00000626705.2:c.166-506_166-504delinsCTG	ENSP00000486402.1:n.166-506_166-504delinsCTG
NM_006888.4:c.268_270delinsCTG	NP_008819.1:p.Phe90Leu
XM_006720258.2:c.271_273delinsCTG	XP_006720321.1:p.Phe91Leu
NM_001363669.1:c.160_162delinsCTG	NP_001350598.1:p.Phe54Leu
NM_001363670.1:c.271_273delinsCTG	NP_001350599.1:p.Phe91Leu
NM_006888.5:c.268_270delinsCTG	NP_008819.1:p.Phe90Leu
NM_006888.6:c.268_270delinsCTG MANE Select	NP_008819.1:p.Phe90Leu
NM_001363669.2:c.160_162delinsCTG	NP_001350598.1:p.Phe54Leu
NM_001363670.2:c.271_273delinsCTG	NP_001350599.1:p.Phe91Leu