Canonical Allele Identifier: CA615948122

Gene: CALM1

Linked Data

• dbSNP Id: rs1178113582
• gnomAD v2: 14-90870671-CCTA-C
• gnomAD v3: 14-90404327-CCTA-C
• gnomAD v4: 14-90404327-CCTA-C
• MyVariant Identifiers: chr14:g.90870672_90870674del (hg19) ; chr14:g.90404328_90404330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.90404330_90404332del , CM000676.2:g.90404330_90404332del	GRCh38
NC_000014.8:g.90870674_90870676del , CM000676.1:g.90870674_90870676del	GRCh37
NC_000014.7:g.89940427_89940429del	NCBI36
NG_013338.1:g.12348_12350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356978.9:c.286-49_286-47del MANE Select	ENSP00000349467.4:n.286-49_286-47del
ENST00000447653.8:c.178-49_178-47del	ENSP00000403491.4:n.178-49_178-47del
ENST00000659177.1:c.178-49_178-47del	ENSP00000499421.1:n.178-49_178-47del
ENST00000663135.1:c.178-49_178-47del	ENSP00000499498.1:n.178-49_178-47del
ENST00000356978.8:c.286-49_286-47del	ENSP00000349467.4:n.286-49_286-47del
ENST00000447653.7:c.289-49_289-47del	ENSP00000403491.3:n.289-49_289-47del
ENST00000544280.6:c.178-49_178-47del	ENSP00000442853.2:n.178-49_178-47del
ENST00000553422.1:c.178-69_178-67del	ENSP00000450425.1:n.178-69_178-67del
ENST00000553542.5:c.178-49_178-47del	ENSP00000450829.1:n.178-49_178-47del
ENST00000553630.1:c.179-49_179-47del	ENSP00000451646.1:n.179-49_179-47del
ENST00000553964.5:n.2416-49_2416-47del
ENST00000554296.1:n.338-49_338-47del
ENST00000556721.1:n.163_165del
ENST00000557020.5:c.178-49_178-47del	ENSP00000451062.1:n.178-49_178-47del
ENST00000626705.2:c.166-127_166-125del	ENSP00000486402.1:n.166-127_166-125del
NM_006888.4:c.286-49_286-47del	NP_008819.1:n.286-49_286-47del
XM_006720258.2:c.289-49_289-47del	XP_006720321.1:n.289-49_289-47del
NM_001363669.1:c.178-49_178-47del	NP_001350598.1:n.178-49_178-47del
NM_001363670.1:c.289-49_289-47del	NP_001350599.1:n.289-49_289-47del
NM_006888.5:c.286-49_286-47del	NP_008819.1:n.286-49_286-47del
NM_006888.6:c.286-49_286-47del MANE Select	NP_008819.1:n.286-49_286-47del
NM_001363669.2:c.178-49_178-47del	NP_001350598.1:n.178-49_178-47del
NM_001363670.2:c.289-49_289-47del	NP_001350599.1:n.289-49_289-47del