Canonical Allele Identifier: CA2576573759

Gene: CREB3L3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4164581_4164583del , CM000681.2:g.4164581_4164583del	GRCh38
NC_000019.9:g.4164578_4164580del , CM000681.1:g.4164578_4164580del	GRCh37
NC_000019.8:g.4115578_4115580del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032607.3:c.655_657del MANE Select	NP_115996.1:p.Glu219del
ENST00000078445.7:c.655_657del MANE Select	ENSP00000078445.1:p.Glu219del
NM_001271995.1:c.652_654del	NP_001258924.1:p.Glu218del
NM_001271995.2:c.652_654del	NP_001258924.1:p.Glu218del
NM_001271996.1:c.649_651del	NP_001258925.1:p.Glu217del
NM_001271996.2:c.649_651del	NP_001258925.1:p.Glu217del
NM_001271997.1:c.655_657del	NP_001258926.1:p.Glu219del
NM_001271997.2:c.655_657del	NP_001258926.1:p.Glu219del
NM_032607.2:c.655_657del	NP_115996.1:p.Glu219del
ENST00000078445.6:c.655_657del	ENSP00000078445.1:p.Glu219del
ENST00000595923.5:c.652_654del	ENSP00000469355.1:p.Glu218del
ENST00000598894.1:n.139_141del
ENST00000602147.1:c.655_657del	ENSP00000470119.1:p.Glu219del
ENST00000602257.5:c.649_651del	ENSP00000472399.1:p.Glu217del