Canonical Allele Identifier: CA2606695938

Gene: CCDC39

Linked Data

• dbSNP Id: rs2108429073
• gnomAD v3: 3-180659901-AAT-A
• gnomAD v4: 3-180659901-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659904_180659905del , CM000665.2:g.180659904_180659905del	GRCh38
NC_000003.11:g.180377692_180377693del , CM000665.1:g.180377692_180377693del	GRCh37
NC_000003.10:g.181860386_181860387del	NCBI36
NG_029581.1:g.24593_24594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.517-134_517-133del MANE Select	ENSP00000417960.2:n.517-134_517-133del
ENST00000650641.1:n.596-134_596-133del
ENST00000650889.1:n.689-134_689-133del
ENST00000651046.1:c.517-134_517-133del	ENSP00000499175.1:n.517-134_517-133del
ENST00000651818.1:n.659-134_659-133del
ENST00000652024.1:n.608-134_608-133del
ENST00000652408.1:n.654-134_654-133del
ENST00000442201.6:c.517-134_517-133del	ENSP00000405708.2:n.517-134_517-133del
ENST00000476379.5:c.517-134_517-133del	ENSP00000417960.1:n.517-134_517-133del
NM_181426.1:c.517-134_517-133del	NP_852091.1:n.517-134_517-133del
NM_181426.2:c.517-134_517-133del MANE Select	NP_852091.1:n.517-134_517-133del