Canonical Allele Identifier: CA2579773446
Community Standard Title: NM_006888.6(CALM1):c.286_287delinsCT (p.Asp96Leu)
Gene: CALM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.90404379_90404380delinsCT , CM000676.2:g.90404379_90404380delinsCT GRCh38
NC_000014.8:g.90870723_90870724delinsCT , CM000676.1:g.90870723_90870724delinsCT GRCh37
NC_000014.7:g.89940476_89940477delinsCT NCBI36
NG_013338.1:g.12397_12398delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_006888.6:c.286_287delinsCT MANE Select NP_008819.1:p.Asp96Leu
ENST00000356978.9:c.286_287delinsCT MANE Select ENSP00000349467.4:p.Asp96Leu
NM_001363669.1:c.178_179delinsCT NP_001350598.1:p.Asp60Leu
NM_001363669.2:c.178_179delinsCT NP_001350598.1:p.Asp60Leu
NM_001363670.1:c.289_290delinsCT NP_001350599.1:p.Asp97Leu
NM_001363670.2:c.289_290delinsCT NP_001350599.1:p.Asp97Leu
NM_006888.4:c.286_287delinsCT NP_008819.1:p.Asp96Leu
NM_006888.5:c.286_287delinsCT NP_008819.1:p.Asp96Leu
ENST00000356978.8:c.286_287delinsCT ENSP00000349467.4:p.Asp96Leu
ENST00000447653.7:c.289_290delinsCT ENSP00000403491.3:p.Asp97Leu
ENST00000447653.8:c.178_179delinsCT ENSP00000403491.4:p.Asp60Leu
ENST00000544280.6:c.178_179delinsCT ENSP00000442853.2:p.Asp60Leu
ENST00000553422.1:c.178-20_178-19delinsCT ENSP00000450425.1:n.178-20_178-19delinsCT
ENST00000553542.5:c.178_179delinsCT ENSP00000450829.1:p.Asp60Leu
ENST00000553630.1:c.179_180delinsCT ENSP00000451646.1:p.Gly60Ala
ENST00000553964.5:n.2416_2417delinsCT
ENST00000554296.1:n.338_339delinsCT
ENST00000556721.1:n.212_213delinsCT
ENST00000557020.5:c.178_179delinsCT ENSP00000451062.1:p.Asp60Leu
ENST00000626705.2:c.166-78_166-77delinsCT ENSP00000486402.1:n.166-78_166-77delinsCT
ENST00000659177.1:c.178_179delinsCT ENSP00000499421.1:p.Asp60Leu
ENST00000663135.1:c.178_179delinsCT ENSP00000499498.1:p.Asp60Leu
XM_006720258.2:c.289_290delinsCT XP_006720321.1:p.Asp97Leu