Canonical Allele Identifier: CA7365371

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103562992dup , CM000676.2:g.103562992dup	GRCh38
NC_000014.8:g.104029329dup , CM000676.1:g.104029329dup	GRCh37
NC_000014.7:g.103099082dup	NCBI36
NG_041786.1:g.5036dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.-10dup (COA8) MANE Select	ENSP00000386485.3:n.-10dup
ENST00000440963.2:c.-10dup (COA8)	ENSP00000388067.2:n.-10dup
ENST00000458117.6:c.-10dup (COA8)	ENSP00000408525.2:n.-10dup
ENST00000472726.3:c.-10dup	ENSP00000439065.2:n.-10dup
ENST00000674165.1:c.30dup (COA8)	ENSP00000501341.1:p.Arg11AlafsTer?
ENST00000409074.6:c.30dup (COA8)	ENSP00000386485.2:p.Arg11AlafsTer?
ENST00000440963.1:c.28dup (COA8)	ENSP00000388067.1:p.Ala10GlyfsTer?
ENST00000458117.5:c.14dup (COA8)
ENST00000472726.2:c.30dup	ENSP00000439065.1:p.Arg11AlafsTer?
ENST00000554625.5:n.11dup (COA8)
ENST00000556253.6:c.-10dup (COA8)	ENSP00000451874.2:n.-10dup
ENST00000557172.5:c.-2+1008dup (KLC1)	ENSP00000450786.1:n.-2+1008dup
NM_001302652.1:c.30dup (COA8)	NP_001289581.1:p.Arg11AlafsTer?
NM_001302653.1:c.30dup (COA8)	NP_001289582.1:p.Arg11AlafsTer?
NM_001302654.1:c.30dup (COA8)	NP_001289583.1:p.Arg11AlafsTer?
NM_032374.4:c.30dup (COA8)	NP_115750.2:p.Arg11AlafsTer?
NR_126431.1:n.36dup (COA8)
NR_126432.1:n.36dup (COA8)
NM_001302652.2:c.-10dup (COA8)	NP_001289581.2:n.-10dup
NM_001302653.2:c.-10dup (COA8)	NP_001289582.2:n.-10dup
NM_001302654.2:c.-10dup (COA8)	NP_001289583.2:n.-10dup
NM_001370595.2:c.-10dup (COA8) MANE Select	NP_001357524.1:n.-10dup
NR_126431.2:n.33dup (COA8)
NR_126432.2:n.33dup (COA8)