Canonical Allele Identifier: CA2715589

Gene: CCDC39 TTC14

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180614946_180614948dup , CM000665.2:g.180614946_180614948dup	GRCh38
NC_000003.11:g.180332734_180332736dup , CM000665.1:g.180332734_180332736dup	GRCh37
NC_000003.10:g.181815428_181815430dup	NCBI36
NG_029581.1:g.69549_69551dup

Transcript Alleles

HGVS	Amino-acid Change
NM_181426.2:c.2800_2802dup (CCDC39) MANE Select	NP_852091.1:p.Val934_Lys935insVal
ENST00000476379.6:c.2800_2802dup (CCDC39) MANE Select	ENSP00000417960.2:p.Val934_Lys935insVal
NM_001288582.1:c.1775-2434_1775-2432dup (TTC14)	NP_001275511.1:n.1775-2434_1775-2432dup
NM_001288582.2:c.1775-2434_1775-2432dup (TTC14)	NP_001275511.1:n.1775-2434_1775-2432dup
NM_181426.1:c.2800_2802dup (CCDC39)	NP_852091.1:p.Val934_Lys935insVal
ENST00000382584.8:c.1775-2434_1775-2432dup (TTC14)	ENSP00000372027.4:n.1775-2434_1775-2432dup
ENST00000442201.6:c.2800_2802dup	ENSP00000405708.2:p.Val934_Lys935insVal
ENST00000473854.5:c.302+49_302+51dup
ENST00000476379.5:c.*624_*626dup	ENSP00000417960.1:n.*624_*626dup
ENST00000489868.5:c.186-1083_186-1081dup	ENSP00000420025.1:n.186-1083_186-1081dup
ENST00000489868.6:c.186-1083_186-1081dup (CCDC39)	ENSP00000420025.1:n.186-1083_186-1081dup
ENST00000651046.1:c.2608_2610dup (CCDC39)	ENSP00000499175.1:p.Val870_Lys871insVal
ENST00000651922.1:n.2125_2127dup (CCDC39)
ENST00000652010.1:n.2876_2878dup (CCDC39)