Canonical Allele Identifier: CA170870

Gene: COA8 KLC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103574116_103574118del , CM000676.2:g.103574116_103574118del	GRCh38
NC_000014.8:g.104040453_104040455del , CM000676.1:g.104040453_104040455del	GRCh37
NC_000014.7:g.103110206_103110208del	NCBI36
NG_041786.1:g.16160_16162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.331_333del (COA8) MANE Select	ENSP00000386485.3:p.Glu111del
ENST00000440963.2:c.123+10992_123+10994del (COA8)	ENSP00000388067.2:n.123+10992_123+10994del
ENST00000458117.6:c.321+2296_321+2298del (COA8)	ENSP00000408525.2:n.321+2296_321+2298del
ENST00000472726.3:c.331_333del	ENSP00000439065.2:p.Glu111del
ENST00000674165.1:c.370_372del (COA8)	ENSP00000501341.1:p.Glu124del
ENST00000409074.6:c.370_372del (COA8)	ENSP00000386485.2:p.Glu124del
ENST00000440963.1:c.160+10992_160+10994del (COA8)	ENSP00000388067.1:n.160+10992_160+10994del
ENST00000458117.5:c.344+2296_344+2298del (COA8)
ENST00000472726.2:c.370_372del	ENSP00000439065.1:p.Glu124del
ENST00000473127.5:c.-30+2296_-30+2298del (COA8)	ENSP00000489380.1:n.-30+2296_-30+2298del
ENST00000474271.1:n.75_77del (COA8)
ENST00000476323.5:c.-30+2296_-30+2298del (COA8)	ENSP00000489047.1:n.-30+2296_-30+2298del
ENST00000477116.5:c.-84_-82del (COA8)	ENSP00000489152.1:n.-84_-82del
ENST00000489117.5:c.445_447del (COA8)	ENSP00000451788.1:n.445_447del
ENST00000492189.5:c.-30+10733_-30+10735del (COA8)	ENSP00000489557.1:n.-30+10733_-30+10735del
ENST00000495778.1:c.256_258del (COA8)	ENSP00000451703.1:p.Glu86del
ENST00000497901.5:n.297_299del (COA8)
ENST00000554625.5:n.351_353del (COA8)
ENST00000554876.5:c.163_165del (COA8)	ENSP00000489308.1:p.Glu55del
ENST00000555660.5:c.67+2296_67+2298del (COA8)
ENST00000556253.6:c.331_333del (COA8)	ENSP00000451874.2:p.Glu111del
ENST00000557172.5:c.-2+12132_-2+12134del (KLC1)	ENSP00000450786.1:n.-2+12132_-2+12134del
NM_001302652.1:c.370_372del (COA8)	NP_001289581.1:p.Glu124del
NM_001302653.1:c.370_372del (COA8)	NP_001289582.1:p.Glu124del
NM_001302654.1:c.370_372del (COA8)	NP_001289583.1:p.Glu124del
NM_032374.4:c.370_372del (COA8)	NP_115750.2:p.Glu124del
NR_126431.1:n.541_543del (COA8)
NR_126432.1:n.366+2296_366+2298del (COA8)
NM_001302652.2:c.331_333del (COA8)	NP_001289581.2:p.Glu111del
NM_001302653.2:c.331_333del (COA8)	NP_001289582.2:p.Glu111del
NM_001302654.2:c.331_333del (COA8)	NP_001289583.2:p.Glu111del
NM_001370595.2:c.331_333del (COA8) MANE Select	NP_001357524.1:p.Glu111del
NR_126431.2:n.538_540del (COA8)
NR_126432.2:n.363+2296_363+2298del (COA8)